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...

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Detalles Bibliográficos
Autores principales: Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/
https://www.ncbi.nlm.nih.gov/pubmed/25205403
http://dx.doi.org/10.1038/ejhg.2014.181

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/
https://www.ncbi.nlm.nih.gov/pubmed/25205403
http://dx.doi.org/10.1038/ejhg.2014.181

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