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| Epidermolysis bullosa and congenital skin fragility v1.45 | DSC3 | Ivone Leong Phenotypes for gene: DSC3 were changed from to ?Hypotrichosis and recurrent skin vesicles, OMIM:613102 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.44 | DSC3 | Ivone Leong Publications for gene: DSC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.24 | DSC3 | Catherine Snow edited their review of gene: DSC3: Added comment: Ayub et al. (PMID:19765682) identified a homozygous nonsense mutation (c.2129T>G; p.Leu710*) in DSC3 in four siblings from a consanguineous Afghani family who presented with a new genodermatosis affecting hair and skin. PMID:31790667 identifies a further Egyptian individual with skin fragility and Hypotrichosis. As less than 3 unrelated individuals identified DSC3 will currently be rated as Amber.; Changed publications: 19765682, 31790667; Changed phenotypes: ereditary Hypotrichosis, Recurrent Skin Vesicles, skin fragility; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.15 | DSC3 | Catherine Snow reviewed gene: DSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.14 | DSC3 |
Catherine Snow gene: DSC3 was added gene: DSC3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal |
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