• We observed a higher prevalence of prenatal/neonatal features in recessive patients, in particular hypotonia and respiratory difficulties. (bvsalud.org)
  • The remainder of the article concentrates on the latest methods of surgical management for these disorders. (medscape.com)
  • Mutation of gene is usually associated with Chediak-Higashi syndrome (CHS), a rare autosomal recessive lysosomal disorder with hematological and immunological abnormalities [13]. (forgetmenotinitiative.org)
  • from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. (lookformedical.com)
  • ii) signalling defects that are either autosomal dominantly inherited (e.g. (medscape.com)
  • Both autosomal dominant and recessive modes of inheritance are found, resulting in either autosomal recessive, or dominant demyelinating CMT4, autosomal dominant axonal CMT2 or intermediate CMTRIA types of CMT, with varying phenotype severity [ 11 ]. (biorxiv.org)
  • We have recently reviewed the dermatological manifestations of inherited cancer syndromes presenting predominantly in adults, namely Muir-Torre syndrome, Gardner syndrome, familial melanoma, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Birt-Hogg-Dubé syndrome and hereditary leiomyomatosis/renal cell cancer, so these are not discussed in this article. (medscape.com)
  • An overview of the different types of DNA damage processing mechanisms which can lead to hereditary cancer predisposition syndromes with dermatological features. (medscape.com)
  • The progress of CMT is linked to the hereditary pattern, whereby the autosomal recessive form has an earlier onset and more severe symptoms than the autosomal dominant form [ 5 - 7 ]. (biorxiv.org)
  • Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary. (openorthopaedicsjournal.com)
  • Gorlin syndrome [ 7 ] ) or caused by new mutations (e.g. (medscape.com)
  • Here, we describe the biochemical and structural properties of the Finnish founding CMT2K mutation H123R as well as CMT2K-linked R120W, both of which are autosomal dominant mutations. (biorxiv.org)
  • Mutations in dozens of genes expressed in the PNS cause Charcot-Marie-Tooth syndrome (CMT). (biorxiv.org)
  • The mutations R120W and H123R, which we focus on in this study, are both autosomal dominant mutations causing the CMT2K subtype. (biorxiv.org)
  • We find that dorsal intermediate progenitors, ventral progenitors and upper-layer excitatory neurons are among the most vulnerable cell types. (bvsalud.org)
  • Here we show that perturbation of 36 high-risk autism spectrum disorder genes related to transcriptional regulation uncovers their effects on cell fate determination. (bvsalud.org)
  • Primary ciliary dyskinesia (PCD) is a genetically heterogeneous autosomal recessive disorder characterized by recurrent infections of the respiratory tract associated with the abnormal function of motile cilia. (nih.gov)
  • and (iv) syndromes that do not fit this molecular classification, such as X-linked dyskeratosis congenita. (medscape.com)
  • This review will enable the dermatologist and other clinicians in the early recognition and molecular confirmation of underlying cancer-predisposing syndromes. (medscape.com)
  • [ 2 ] Note that the familial cancer syndromes and other genodermatoses associated with cancer discussed here do not necessarily strictly represent a 'syndrome' in the classic sense, i.e. the association of several clinically recognizable features each linked with an identical molecular pathology. (medscape.com)
  • [ 9 ] and (iv) a miscellaneous group of syndromes that do not fit this molecular classification. (medscape.com)
  • Cerebral organoids enable the study of neurodevelopmental disorders in a human context. (bvsalud.org)
  • Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). (bvsalud.org)
  • EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. (nih.gov)
  • We construct a developmental gene regulatory network of cerebral organoids from single-cell transcriptomes and chromatin modalities and identify autism spectrum disorder-associated and perturbation-enriched regulatory modules. (bvsalud.org)
  • Developmental anomalies of the müllerian duct system represent some of the most fascinating disorders that obstetricians and gynecologists encounter. (medscape.com)