Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome

Autor: Legrand, Anne, Devriese, Magali, Dupuis-Girod, Sophie, Simian, Christophe, Venisse, Annabelle, Mazzella, Jean Michael, Auribault, Karine, Adham, Salma, Frank, Michael, Albuisson, Juliette, Jeunemaitre, Xavier
Zdroj: In Genetics in Medicine July 2019 21(7):1568-1575
Databáze: ScienceDirect