*  cutis laxa - oi
Autosomal dominant cutis laxa can be caused by mutations in the elastin gene. Mutations in the gene encoding fibulin-5 can ... LTBP4 and Autosomal Recessive Cutis Laxa Type IC Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in ... Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa ... a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 ( ...
  http://oxfordindex.oup.com/view/10.1093/oi/authority.20110803095655239
*  Fibulin-5
Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age- ... Cutis Laxa, Autosomal Dominant 3 Cutis Laxa, Autosomal Recessive, Type I 3 ... CUTIS LAXA, AUTOSOMAL DOMINANT 1 2 CUTIS LAXA, AUTOSOMAL DOMINANT 2 1 ... Phenotype: Cutis laxa, autosomal recessi... 1 Cutis laxa, autosomal dominant 2 1 ...
  https://pharos.nih.gov/idg/targets/Q9UBX5
*  Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa - Callewaert - 2012 - Human...
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or ... Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa. Authors. *. Bert Callewaert,. ... Zsolt Urban, Elaine C. Davis, Cutis laxa: Intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and ... Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1, Molecular Genetics and ...
  http://onlinelibrary.wiley.com/doi/10.1002/humu.22165/abstract?globalMessage=0
*  Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency - Full...
Cutis Laxa. Ehlers-Danlos Syndrome. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central ... Genetic and Rare Diseases Information Center resources: Menkes Disease Occipital Horn Syndrome Cutis Laxa Ehlers-Danlos ... Genetics Home Reference related topics: Ehlers-Danlos syndrome Menkes syndrome cutis laxa ...
  https://clinicaltrials.gov/ct2/show/NCT00811785?term=menkes&rank=2
*  RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome - University of Huddersfield...
Unmapped bibliographic data: ST - RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome [ ... RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome ... cutis laxa, and scoliosis). The disorder was mapped to chromosome 20p11.21-p11.23, and a homozygous frameshift mutation in RIN2 ... cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85 (2). pp. 254-263. ISSN 1537-6605 ...
  http://eprints.hud.ac.uk/id/eprint/28796/
*  Cutis Laxa: Types, Symptoms, and Treatment
Cutis laxa is a disorder of the connective tissue, causing tightened, elastic tissue to loosen. It's inherited or occurs later ... How Is Cutis Laxa Prevented?. You can't prevent cutis laxa because it's a genetic condition. Acquired cutis laxa can't be ... but don't have the genetic changes associated with cutis laxa. This type of cutis laxa is known as acquired cutis laxa. This ... How Is Cutis Laxa Diagnosed?. A doctor, often a dermatologist, diagnoses cutis laxa. A doctor will start by taking a thorough ...
  https://www.healthline.com/health/cutis-laxa
*  Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
... we define an autosomal recessive cutis laxa syndrome. The patients have a complex phenotype of neonatal cutis laxa, transient ... Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a ... Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.. ... and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous ...
  http://repository.ubn.ru.nl/handle/2066/69660
*  Congenital disorder of glycosylation - Wikipedia
"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nature Genetics. 40 (1 ...
  https://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation
*  De Barsy syndrome - Wikipedia
Alternative names for De Barsy syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency ... Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. It is ... Morava, Éva; Guillard, Maïlys; Lefeber, Dirk J; Wevers, Ron A (2009). "Autosomal recessive cutis laxa syndrome revisited". ... 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016-21. doi:10.1038/ng.413. ...
  https://en.wikipedia.org/wiki/De_Barsy_syndrome
*  Cutis Laxa - NORD (National Organization for Rare Disorders)
EFEMP2-RELATED CUTIS LAXA. This disorder is also known as FBLN4-related cutis laxa or autosomal recessive cutis laxa type 1B ( ... PYCR1-RELATED CUTIS LAXA. This disorder is also known as autosomal recessive cutis laxa 2B (ARCL2B). The skin symptoms of cutis ... FBLN5-RELATED CUTIS LAXA. This disorder is also known as autosomal recessive cutis laxa type 1A (ARCL1A). The symptoms and age ... LTBP4-RELATED CUTIS LAXA. This disorder is also known as Urban-Rifkin-Davis syndrome or autosomal recessive cutis laxa type 1C ...
  https://rarediseases.org/rare-diseases/cutis-laxa/
*  Cutis laxa
Are you sure your patient has cutis laxa? What are the typical findings for this disease?. Cutis Laxa is a hereditary disorder ... If you are able to confirm that the patient has cutis laxa, what treatment should be initiated?. *. Cutis laxa - may require ... Also called cutis laxa with corneal clouding and mental retardation. Clinical features include cutis laxa with thin, ... related cutis laxa.) Van Maldergem, L, Dobyns, W, Kornak, W. "TP6V0A2-Related Cutis Laxa". In: GeneReviews at GeneTests: ...
  http://www.neurologyadvisor.com/pediatrics/cutis-laxa/article/622150/
*  Clinical Presentation of a Patient with Localized Acquired Cutis Laxa of Abdomen: A Case Report
M. C. Wong, G. A. Georgeu, E. M. Sassoon, and T. J. O'Neill, "A case report of cutis laxa in one of identical twins," Aesthetic ... Clinical Presentation of a Patient with Localized Acquired Cutis Laxa of Abdomen: A Case Report. Tugomir Gverić,1 Marko Barić,1 ... Cutis laxa (CL) is a rare disorder of elastic tissue characterized by loose, sagging skin with reduced elasticity, and ... H. L. De Almeida Jr., M. P. Da Rocha, S. Neugebauer, M. Wolter, and N. M. Rocha, "Acquired cephalic cutis laxa," Dermatology ...
  https://www.hindawi.com/journals/drp/2010/402093/
*  Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
... Tim Van Damme UGent, Thatjana Gardeitchik, Miski Mohamed ... 2017). Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. AMERICAN JOURNAL OF HUMAN GENETICS, 100(2), 216- ... "Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-recessive Cutis Laxa." American Journal of Human Genetics 100 (2): 216-227. ... "Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-recessive Cutis Laxa." AMERICAN JOURNAL OF HUMAN GENETICS 100.2 (2017): 216- ...
  https://biblio.ugent.be/publication/8509671
*  Cutis laxa - Wikipedia
Cutis Laxa, X-Linked -304150 Online Mendelian Inheritance in Man (OMIM) Cutis Laxa, Autosomal Recessive, Type I -219100 Online ... Cutis Laxa, Autosomal Dominant -123700 Online Mendelian Inheritance in Man (OMIM) Cutis Laxa, Autosomal Recessive, Type II - ... Cutis laxa may be caused by mutations in the genes: ELN, ATP6V0A2, ATP7A, FBLN4, FBLN5, and PYCR1. A related neurocutaneous ... Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix. Various mutations in genes have ...
  https://en.wikipedia.org/wiki/Cutis_laxa
*  Cutis Laxa Disease
Lack of natural history studies, since all entities within the cutis laxa spectrum ...
  http://skin.ern-net.eu/cutis-laxa-disease/
*  Cutis Laxa Treatment in Singapore - Find a Pulmonologist near you | Practo
Check Prices, Opening Hours & Book an Appointment Online for Cutis Laxa Treatment in Singapore , Practo ...
  https://www.practo.com/singapore/treatment-for-cutis-laxa?page=2
*  Cutis Laxa, Autosomal Recessive, Type IIA
Build: Sat Feb 17 08:59:16 EST 2018 (commit: 16064c5). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
  https://pharos.nih.gov/idg/diseases/umls:C0268355
*  Costello Syndrome With Severe Cutis Laxa and Mosaic HRAS G12S Mutation - MAHE Digital Repository
Girisha, KM and Lewis, Leslie and Phadke, Shubha R and Kutsche, Kerstin (2010) Costello Syndrome With Severe Cutis Laxa and ...
  http://eprints.manipal.edu/2106/
*  Cutis laxa, autosomal recessive 1B | Connective Tissue Gene Tests
Cutis laxa, autosomal recessive, type IC (ARCL1C). 613177. AR. PYCR1. Cutis laxa, autosomal recessive, type IIB (ARCL2B). Cutis ... Cutis laxa, autosomal recessive, type IID (ARCL2D). 617403. AR. ATP6V1E1. Cutis laxa, autosomal recessive, type IIC (ARCL2C). ... Cutis laxa, autosomal recessive, type IIIA (ARCL3A). 616603 219150. AD AR. ATP6V0A2. Cutis laxa, autosomal recessive, type IIA ... Cutis laxa, autosomal recessive, type IB (ARCL1B). 614437. AR. ELN. Cutis laxa, autosomal dominant 1 (ADCL1). Supravalvular ...
  http://ctgt.net/disorder/cutis-laxa-autosomal-recessive-1b
*  Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa :: MPG.PuRe
Cutis laxa; V-ATPase; Congenital disorders of glycosylation; OMIM 219200; Apolipoprotein C III; Titel: Vacuolar H+-ATPase meets ... 2009). Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of ... A clinical overview of cutis laxa syndromes is presented with a focus on ARCL II. Finally, the relationship between ATP6V0A2 ... and O-glycosylation was identified in patients with autosomal recessive cutis laxa type II (ARCL II). Disease-causing mutations ...
  http://pubman.mpdl.mpg.de/pubman/faces/viewItemOverviewPage.jsp?itemId=escidoc:1584090
*  CECAD: Publications 2008
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. Jan;40(1):32- ...
  http://www.cecad.uni-koeln.de/index.php?id=155&type=0
*  Elastina - Wikipédia, a enciclopédia livre
2004). «A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa». Arch Dermatol. 140 (9): 1135-9. ...
  https://pt.wikipedia.org/wiki/Elastina
*  Congenital Vascular Syndromes - ONA
LEOPARD syndrome and cutis laxa.. Pulmonary artery disease is usually obstructive (with the exception of pulmonary valve ...
  https://www.oncologynurseadvisor.com/pulmonary-medicine/congenital-vascular-syndromes/article/717960/
*  Granulomatous slack skin | Dermpedia
Cutis laxa. *Papillary-dermal elastolysis. *Mid-dermal elastolysis. *Menkes syndrome. *Fragile X syndrome ...
  http://www.dermpedia.org/dermpedia-textbook/granulomatous-slack-skin
*  Donohue-Uchida Syndrome | definition of Donohue-Uchida Syndrome by Medical dictionary
... cutis laxa, atrophy of subcutaneous fat, dwarfism, extreme wasting, mental retardation, dysphagia, enlarged nipples, breasts, ...
  https://medical-dictionary.thefreedictionary.com/Donohue-Uchida+Syndrome