Receptors, Fibroblast Growth Factor: Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.Fibroblast Growth Factor 2: A single-chain polypeptide growth factor that plays a significant role in the process of WOUND HEALING and is a potent inducer of PHYSIOLOGIC ANGIOGENESIS. Several different forms of the human protein exist ranging from 18-24 kDa in size due to the use of alternative start sites within the fgf-2 gene. It has a 55 percent amino acid residue identity to FIBROBLAST GROWTH FACTOR 1 and has potent heparin-binding activity. The growth factor is an extremely potent inducer of DNA synthesis in a variety of cell types from mesoderm and neuroectoderm lineages. It was originally named basic fibroblast growth factor based upon its chemical properties and to distinguish it from acidic fibroblast growth factor (FIBROBLAST GROWTH FACTOR 1).Fibroblast Growth Factors: A family of small polypeptide growth factors that share several common features including a strong affinity for HEPARIN, and a central barrel-shaped core region of 140 amino acids that is highly homologous between family members. Although originally studied as proteins that stimulate the growth of fibroblasts this distinction is no longer a requirement for membership in the fibroblast growth factor family.Receptor, Fibroblast Growth Factor, Type 2: A fibroblast growth factor receptor that is found in two isoforms. One receptor isoform is found in the MESENCHYME and is activated by FIBROBLAST GROWTH FACTOR 2. A second isoform of fibroblast growth factor receptor 2 is found mainly in EPITHELIAL CELLS and is activated by FIBROBLAST GROWTH FACTOR 7 and FIBROBLAST GROWTH FACTOR 10. Mutation of the gene for fibroblast growth factor receptor 2 can result in craniosynostotic syndromes (e.g., APERT SYNDROME; and CROUZON SYNDROME).Receptor, Fibroblast Growth Factor, Type 1: A fibroblast growth factor receptor with specificity for FIBROBLAST GROWTH FACTORS; HEPARAN SULFATE PROTEOGLYCAN; and NEURONAL CELL ADHESION MOLECULES. Several variants of the receptor exist due to multiple ALTERNATIVE SPLICING of its mRNA. Fibroblast growth factor receptor 1 is a tyrosine kinase that transmits signals through the MAP KINASE SIGNALING SYSTEM.Receptor, Fibroblast Growth Factor, Type 3: A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.Fibroblast Growth Factor 1: A 17-kDa single-chain polypeptide growth factor that plays a significant role in the process of WOUND HEALING and is a potent inducer of PHYSIOLOGIC ANGIOGENESIS. It binds to HEPARIN, which potentiates its biological activity and protects it from proteolysis. The growth factor is an extremely potent inducer of DNA synthesis in a variety of cell types from mesoderm and neuroectoderm lineages, and also has chemotactic and mitogenic activities. It was originally named acidic fibroblast growth factor based upon its chemical properties and to distinguish it from basic fibroblast growth factor (FIBROBLAST GROWTH FACTOR 2).Receptor, Epidermal Growth Factor: A cell surface receptor involved in regulation of cell growth and differentiation. It is specific for EPIDERMAL GROWTH FACTOR and EGF-related peptides including TRANSFORMING GROWTH FACTOR ALPHA; AMPHIREGULIN; and HEPARIN-BINDING EGF-LIKE GROWTH FACTOR. The binding of ligand to the receptor causes activation of its intrinsic tyrosine kinase activity and rapid internalization of the receptor-ligand complex into the cell.Acrocephalosyndactylia: Congenital craniostenosis with syndactyly.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Craniosynostoses: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.Synostosis: A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)Plagiocephaly, Nonsynostotic: A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME.Plagiocephaly: The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY).Cranial Sutures: A type of fibrous joint between bones of the head.Skull: The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.Frontal Bone: The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.Craniofacial Dysostosis: Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.Parietal Bone: One of a pair of irregularly shaped quadrilateral bones situated between the FRONTAL BONE and OCCIPITAL BONE, which together form the sides of the CRANIUM.Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Community Networks: Organizations and individuals cooperating together toward a common goal at the local or grassroots level.Sandfly fever Naples virus: A species in the genus PHLEBOVIRUS causing PHLEBOTOMUS FEVER, an influenza-like illness. Related serotypes include Toscana virus and Tehran virus.Phlebotomus Fever: Influenza-like febrile viral disease caused by several members of the BUNYAVIRIDAE family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.Phlebovirus: A genus of the family BUNYAVIRIDAE comprising many viruses, most of which are transmitted by Phlebotomus flies and cause PHLEBOTOMUS FEVER. The type species is RIFT VALLEY FEVER VIRUS.ItalyFloridaMuseumsFamous PersonsDirectorySearch Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Multilingualism: The ability to speak, read, or write several languages or many languages with some facility. Bilingualism is the most common form. (From Random House Unabridged Dictionary, 2d ed)Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Language: A verbal or nonverbal means of communicating ideas or feelings.Vocabulary: The sum or the stock of words used by a language, a group, or an individual. (From Webster, 3d ed)ReadingPhonetics: The science or study of speech sounds and their production, transmission, and reception, and their analysis, classification, and transcription. (Random House Unabridged Dictionary, 2d ed)Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Information Storage and Retrieval: Organized activities related to the storage, location, search, and retrieval of information.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.National Library of Medicine (U.S.): An agency of the NATIONAL INSTITUTES OF HEALTH concerned with overall planning, promoting, and administering programs pertaining to advancement of medical and related sciences. Major activities of this institute include the collection, dissemination, and exchange of information important to the progress of medicine and health, research in medical informatics and support for medical library development.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Orphan Drug Production: Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.MEDLARS: A computerized biomedical bibliographic storage and retrieval system operated by the NATIONAL LIBRARY OF MEDICINE. MEDLARS stands for Medical Literature Analysis and Retrieval System, which was first introduced in 1964 and evolved into an online system in 1971 called MEDLINE (MEDLARS Online). As other online databases were developed, MEDLARS became the name of the entire NLM information system while MEDLINE became the name of the premier database. MEDLARS was used to produce the former printed Cumulated Index Medicus, and the printed monthly Index Medicus, until that publication ceased in December 2004.Libraries, MedicalWilliams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
(1/135) Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome (ACS III) is an autosomal dominant craniosynostosis syndrome recently ascribed to mutations in the TWIST gene, a basic helix-loop-helix (b-HLH) transcription factor regulating head mesenchyme cell development during cranial neural tube formation in mouse. Studying a series of 22 unrelated ACS III patients, we have found TWIST mutations in 16/22 cases. Interestingly, these mutations consistently involved the b-HLH domain of the protein. Indeed, mutant genotypes included frameshift deletions/insertions, nonsense and missense mutations, either truncating or disrupting the b-HLH motif of the protein. This observation gives additional support to the view that most ACS III cases result from loss-of-function mutations at the TWIST locus. The P250R recurrent FGFR 3 mutation was found in 2/22 cases presenting mild clinical manifestations of the disease but 4/22 cases failed to harbour TWIST or FGFR 3 mutations. Clinical re-examination of patients carrying TWIST mutations failed to reveal correlations between the mutant genotype and severity of the phenotype. Finally, since no TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis, the present study suggests that TWIST mutations are specific to Saethre-Chotzen syndrome.  (+info)

(2/135) Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders.

Craniosynostoses are a heterogeneous group of disorders characterized by premature fusion of cranial sutures. Mutations in fibroblast growth factor receptors (FGFRs) have been associated with a number of such conditions. Nevertheless, the cellular mechanism(s) involved remain unknown. We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts. Osteoblasts from craniosynostotic patients exhibited a lower proliferation rate than control osteoblasts. P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes. By contrast, the low proliferation rate of C342R osteoblasts was not associated with a differentiated phenotype. Although they showed higher alkaline phosphatase activity than control, C342R osteoblasts failed to mineralize and expressed low levels of osteopontin and osteonectin and high protein kinase Czeta levels. Stimulation of proliferation and inhibition of differentiation were observed in all cultures on FGF2 treatment. Our results suggest that an anticipated proliferative/differentiative switch, associated with alterations of the FGFR transduction pathways, could be the causative common feature in craniosynostosis and that mutations in distinct FGFR2 domains are associated with an in vitro heterogeneous differentiative phenotype.  (+info)

(3/135) Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.  (+info)

(4/135) Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.

Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been found to account for the disorder in approximately 98% of affected patients. Seven cases of prenatal ultrasound diagnosis have been reported. Although one earlier diagnosis has been made in a familial case, sporadic cases have not been definitively diagnosed until the third trimester when craniosynostosis is usually detected. We report a second-trimester molecular diagnosis of a sporadic case, based on the ultrasound observation of fetal 'mitten hands' and craniosynostosis. We discuss the approach to such ultrasound features, given the current availability of molecular diagnosis for Apert syndrome.  (+info)

(5/135) Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. 4x10-7; 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34. 50+/-7.65 years vs. 30.45+/-1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations.  (+info)

(6/135) Integration of FGF and TWIST in calvarial bone and suture development.

Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. Although clinically achieving the same end result, the premature fusion of the calvarial bones, it is not known whether these genes lie in the same or independent pathways during calvarial bone development and later in suture closure. We have previously shown that Fgfr2c is expressed at the osteogenic fronts of the developing calvarial bones and that, when FGF is applied via beads to the osteogenic fronts, suture closure is accelerated (Kim, H.-J., Rice, D. P. C., Kettunen, P. J. and Thesleff, I. (1998) Development 125, 1241-1251). In order to investigate further the role of FGF signalling during mouse calvarial bone and suture development, we have performed detailed expression analysis of the splicing variants of Fgfr1-Fgfr3 and Fgfr4, as well as their potential ligand Fgf2. The IIIc splice variants of Fgfr1-Fgfr3 as well as the IIIb variant of Fgfr2 being expressed by differentiating osteoblasts at the osteogenic fronts (E15). In comparison to Fgf9, Fgf2 showed a more restricted expression pattern being primarily expressed in the sutural mesenchyme between the osteogenic fronts. We also carried out a detailed expression analysis of the helix-loop-helix factors (HLH) Twist and Id1 during calvaria and suture development (E10-P6). Twist and Id1 were expressed by early preosteoblasts, in patterns that overlapped those of the FGF ligands, but as these cells differentiated their expression dramatically decreased. Signalling pathways were further studied in vitro, in E15 mouse calvarial explants. Beads soaked in FGF2 induced Twist and inhibited Bsp, a marker of functioning osteoblasts. Meanwhile, BMP2 upregulated Id1. Id1 is a dominant negative HLH thought to inhibit basic HLH such as Twist. In Drosophila, the FGF receptor FR1 is known to be downstream of Twist. We demonstrated that in Twist(+/)(-) mice, FGFR2 protein expression was altered. We propose a model of osteoblast differentiation integrating Twist and FGF in the same pathway, in which FGF acts both at early and late stages. Disruption of this pathway may lead to craniosynostosis.  (+info)

(7/135) Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.

Fibroblast growth factors (FGF) play a critical role in bone growth and development affecting both chondrogenesis and osteogenesis. During the process of intramembranous ossification, which leads to the formation of the flat bones of the skull, unregulated FGF signaling can produce premature suture closure or craniosynostosis and other craniofacial deformities. Indeed, many human craniosynostosis disorders have been linked to activating mutations in FGF receptors (FGFR) 1 and 2, but the precise effects of FGF on the proliferation, maturation and differentiation of the target osteoblastic cells are still unclear. In this report, we studied the effects of FGF treatment on primary murine calvarial osteoblast, and on OB1, a newly established osteoblastic cell line. We show that FGF signaling has a dual effect on osteoblast proliferation and differentiation. FGFs activate the endogenous FGFRs leading to the formation of a Grb2/FRS2/Shp2 complex and activation of MAP kinase. However, immature osteoblasts respond to FGF treatment with increased proliferation, whereas in differentiating cells FGF does not induce DNA synthesis but causes apoptosis. When either primary or OB1 osteoblasts are induced to differentiate, FGF signaling inhibits expression of alkaline phosphatase, and blocks mineralization. To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells. Both mutations inhibited differentiation, while dramatically inducing apoptosis. Furthermore, we could also show that overexpression of FGF2 in transgenic mice leads to increased apoptosis in their calvaria. These data provide the first biochemical analysis of FGF signaling in osteoblasts, and show that FGF can act as a cell death inducer with distinct effects in proliferating and differentiating osteoblasts.  (+info)

(8/135) A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.

Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). Here we show that mice carrying a Pro250Arg mutation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-posteriorly shortened, laterally widened and vertically heightened neurocraniums. Analysis of the posterior and anterior frontal, sagittal and coronal sutures of early post-natal mutant mice revealed premature fusion. The sutures of mutant mice had accelerated osteoblast proliferation and increased expression of genes related to osteoblast differentiation, suggesting that bone formation at the sutures is locally increased in Pfeiffer syndrome. Of note, dramatically increased expression of core-binding transcription factor alpha subunit type 1 (Cbfa1) accompanied premature fusion, suggesting that Cbfa1 may be a downstream target of Fgf/Fgfr1 signals. This was confirmed in vitro, where we demonstrate that transfection with wild-type or mutant Fgfr1 induces Cbfa1 expression. The induced expression was also observed using Fgf ligands (Fgf2 and Fgf8). These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.  (+info)

*  Acrocephalosyndactylia
... (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly. It has several ... Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH). ...
*  Pfeiffer syndrome
... acrocephalosyndactylia) that were inherited in an autosomal dominant pattern. In 1996, a baby boy was born to (the artist ... Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90: 301-20. doi:10.1007/BF00447500. ...
*  Oxycephaly
8th cranial nerve lesion Optic nerve compression Mental retardation Syndactyly Acrocephalosyndactylia Mosby's Medical ...
*  List of MeSH codes (C05)
... acrocephalosyndactylia MeSH C05.116.099.370.894.819 --- syndactyly MeSH C05.116.099.370.894.819.100 --- acrocephalosyndactylia ... acrocephalosyndactylia MeSH C05.660.906.819 --- syndactyly MeSH C05.660.906.819.100 --- acrocephalosyndactylia MeSH C05.660. ... acrocephalosyndactylia MeSH C05.660.585.800.756 --- poland syndrome MeSH C05.660.585.984 --- thanatophoric dysplasia MeSH ... acrocephalosyndactylia MeSH C05.660.207.410 --- holoprosencephaly MeSH C05.660.207.525 --- leopard syndrome MeSH C05.660. ...
*  List of MeSH codes (C16)
... acrocephalosyndactylia MeSH C16.131.621.906.819 --- syndactyly MeSH C16.131.621.906.819.100 --- acrocephalosyndactylia MeSH ... acrocephalosyndactylia MeSH C16.131.621.585.800.756 --- poland syndrome MeSH C16.131.621.585.984 --- thanatophoric dysplasia ... acrocephalosyndactylia MeSH C16.131.621.207.410 --- holoprosencephaly MeSH C16.131.621.207.525 --- leopard syndrome MeSH ...
Craniosynostosis  Craniosynostosis
... that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and ...
more infohttp://www.fpnotebook.com/NICU/Neuro/Crnsynsts.htm
Acrocephalosyndactylia - Wikipedia  Acrocephalosyndactylia - Wikipedia
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1] ... Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH) ... Retrieved from "https://en.wikipedia.org/w/index.php?title=Acrocephalosyndactylia&oldid=827318465" ...
more infohttps://en.wikipedia.org/wiki/Acrocephalosyndactylia
FGF9 Gene - GeneCards | FGF9 Protein | FGF9 Antibody  FGF9 Gene - GeneCards | FGF9 Protein | FGF9 Antibody
acrocephalosyndactylia. proximal symphalangism. *symphalangism, proximal, 1a. - elite association - COSMIC cancer census ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2254
Pfeiffer syndrome - Wikipedia  Pfeiffer syndrome - Wikipedia
... acrocephalosyndactylia) that were inherited in an autosomal dominant pattern. In 1996, a baby boy was born to (the artist ... Dominant Hereditary Acrocephalosyndactylia]. Zeitschrift für Kinderheilkunde (in German). 90: 301-20. doi:10.1007/BF00447500. ...
more infohttps://en.wikipedia.org/wiki/Pfeiffer_syndrome
Reactome | FGFR2 IIIa TM [extracellular region]  Reactome | FGFR2 IIIa TM [extracellular region]
acrocephalosyndactylia 12960. Apert syndrome Cross References. RefSeq. NP_001138391.1, NP_001138388.1, NP_001138385.1, NP_ ...
more infohttps://reactome.org/content/detail/R-HSA-8851703
Craniosynostosis  Craniosynostosis
... that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and ...
more infohttps://fpnotebook.com/NICU/Neuro/Crnsynsts.htm
A To Z Health Topics: List of Rare Diseases  A To Z Health Topics: List of Rare Diseases
Acrocephalosyndactylia. Acrodermatitis. Addison Disease. Adie Syndrome. Alagille Syndrome. Amylose. Amyotrophic Lateral ...
more infohttp://atozhealthtopics.blogspot.com/2011/02/list-of-rare-diseases.html
Words in 22 letters with A  Words in 22 letters with A
acrocephalosyndactylia craniosynostosis together with syndactyly. → Definition and anagrams of acrocephalosyndactylia. → Other ...
more infohttps://lotsofwords.com/a/22-letters
Words in 22 letters without J  Words in 22 letters without J
acrocephalosyndactylia craniosynostosis together with syndactyly. → Definition and anagrams of acrocephalosyndactylia. → Other ...
more infohttps://lotsofwords.com/-j/22-letters
Targets  Targets
Acrocephalosyndactylia. 1 , 15 Blastic phase chronic myeloid leukemia. 1 , 58 Breast cancer. 1 , 3,099 ...
more infohttps://pharos.nih.gov/idg/targets?facet=Grant+Application/5K08EY018874-03
DisGeNET - a database of gene-disease associations  DisGeNET - a database of gene-disease associations
Acrocephalosyndactylia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases ...
more infohttp://disgenet.org/browser/1/1/0/2263/source__ALL/_b./
Targets  Targets
Acrocephalosyndactylia. 3 , 17 Bipolar Disorder. 3 , 666 Congenital absence of kidney. 3 , 31 ...
more infohttps://pharos.nih.gov/idg/targets?facet=Reactome+Pathway/FGFR2+mutant+receptor+activation
塚本 真規 - 研究成果
     - 九州大学  塚本 真規 - 研究成果 - 九州大学
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more infohttps://kyushu-u.pure.elsevier.com/ja/persons/masanori-tsukamoto/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle
Pfeiffer syndrome | Orphanet Journal of Rare Diseases | Full Text  Pfeiffer syndrome | Orphanet Journal of Rare Diseases | Full Text
Pfeiffer RA: Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd. 1964, 90: 301-320. 10.1007/BF00447500.View Article ...
more infohttps://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-19
Search  Search
Apert Sendromu (Acrocephalosynda Ctylia) (Olgu Bildirimi)  OSMA, EMİNE; Köse, Galip; ÖZKAN, HASAN (Dokuz Eylül Üniversitesi ...
more infohttp://acikerisim.deu.edu.tr/xmlui/discover?field=author&filtertype=author&filter_relational_operator=equals&filter=%C3%96ZKAN%2C+HASAN
Apert Syndrome: Background, Pathophysiology, Epidemiology  Apert Syndrome: Background, Pathophysiology, Epidemiology
Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a ... of cases arise by new mutation.The syndrome is named for the French physician who described the syndrome acrocephalosyndactylia ...
more infohttps://emedicine.medscape.com/article/941723-overview
511 English Words With 22 Letters Ending in . :: WordMine.info -- International Dictionary Search Engine  511 English Words With 22 Letters Ending in . :: WordMine.info -- International Dictionary Search Engine
A List with 511 English Words With 22 Letters Ending in . - Words: ABDOMINOHYSTERECTOMIES - ZENZIZENZIZENZIZENZIKE -- -- WordMine.info is a search engine for finding words. The searches can be done in a lots of different languages. Search Type: Crossword Solver, Words that starts with, Words Ending in, Words with, Palindrome Words Matching, Anagrams of, Words From Letters, Words In the Word, Words Matching Pattern,
more infohttp://www.wordmine.info/Search.aspx?slang=en&stype=words-ending-in&sword=.&minletters=22&maxletters=22
Saethre-Chotzen Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials  Saethre-Chotzen Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Disease Ontology : 12 An acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results ...
more infohttps://www.malacards.org/card/saethre_chotzen_syndrome