Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

Lehalle, Daphné; Gordon, Christopher T; Oufadem, Myriam; Goudefroye, Géraldine; Boutaud, Lucile; Alessandri, Jean-Luc; Baena, Neus; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Decaestecker, Charles; Gaillard, Dominique; Goldenberg, Alice; Gonzales, Marie; Holder-Espinasse, Muriel; Jacquemont, Marie-Line; Lacombe, Didier; Manouvrier-Hanu, Sylvie; Marlin, Sandrine; Mathieu-Dramard, Michèle; Morin, Gilles; Pasquier, Laurent; Petit, Florence; Rio, Marlène; Smigiel, Robert; Thauvin-Robinet, Christel; Vasiljevic, Alexandre; Verloes, Alain; Malan, Valérie; Munnich, Arnold; de Pontual, Loïc; Vekemans, Michel; Lyonnet, Stanislas; Attié-Bitach, Tania; Amiel, Jeanne.
Hum Mutat; 35(4): 478-85, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24470203