Article
DNA methylation episignature in Gabriele-de Vries syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2022
Cherik Florian, Reilly Jack, Kerkhof Jennifer, Levy Michael, McConkey Haley, Barat-Houari Mouna, Butler Kameryn M, Coubes Christine, Lee Jennifer A, Le Guyader Gwenael, Louie Raymond J, Patterson Wesley G, Tedder Matthew L, Bak Mads, Hammer Trine Bjørg, Craigen William, Démurger Florence, Dubourg Christèle, Fradin Mélanie, Franciskovich Rachel, Frengen Eirik, Friedman Jennifer, Palares Nathalie Ruiz, Iascone Maria, Misceo Doriana, Monin Pauline, Odent Sylvie, Philippe Christophe, Rouxel Flavien, Saletti Veronica, Strømme Petter, Thulin Perla Cassayre, Sadikovic Bekim, Genevieve David
Abstract excerpt
PURPOSE: 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...
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