Fiche publication
Date publication
janvier 2022
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr PHILIPPE Christophe
Tous les auteurs :
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D
Lien Pubmed
Résumé
Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand the molecular basis of the syndrome, we analyzed clinical data and performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1 variant.
Mots clés
DNA methylation, Epigenetics, Gabriele-de Vries syndrome, Intellectual disability, YY1
Référence
Genet Med. 2022 Jan 10;:
