Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

Vascular Ehlers–Danlos Syndrome (vEDS), also known as EDS type IV, is considered to be an autosomal dominant disorder caused by sequence variants in COL3A1, which encodes the chains of type III procollagen. We identified a family in which there was marked clinical variation with the earliest death d...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795069/
https://ncbi.nlm.nih.gov/pubmed/25205403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.181
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