The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Vascular Ehlers–Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were...

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Pubblicato in:Eur J Hum Genet
Autori principali: Frank, Michael, Albuisson, Juliette, Ranque, Brigitte, Golmard, Lisa, Mazzella, Jean-Michael, Bal-Theoleyre, Laurence, Fauret, Anne-Laure, Mirault, Tristan, Denarié, Nicolas, Mousseaux, Elie, Boutouyrie, Pierre, Fiessinger, Jean-Noël, Emmerich, Joseph, Messas, Emmanuel, Jeunemaitre, Xavier
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795191/
https://ncbi.nlm.nih.gov/pubmed/25758994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.32
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