Article
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2019
Legrand Anne, Devriese Magali, Dupuis-Girod Sophie, Simian Christophe, Venisse Annabelle, Mazzella Jean Michael, Auribault Karine, Adham Salma, Frank Michael, Albuisson Juliette, Jeunemaitre Xavier
Abstract excerpt
PURPOSE: 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. METHODS: This retrospective study included a large series of COL3A1-confirmed vEDS probands with family information. The frequency of de novo cases...
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