Fiche publication
Date publication
juillet 2019
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr ALBUISSON Juliette
Tous les auteurs :
Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X
Lien Pubmed
Résumé
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental mosaicism, but its frequency is unknown.
Mots clés
COL3A1, de novo variant, deep targeted next-generation sequencing, mosaicism, vascular Ehlers–Danlos syndrome
Référence
Genet Med. 2019 07;21(7):1568-1575
