EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonzales, Marie; Lacombe, Didier; Escande, Fabienne; Manouvrier-Hanu, Sylvie; Marlin, Sandrine; Mathieu-Dramard, Michèle; Mehta, Sarju G; Simonic, Ingrid; Munnich, Arnold; Vekemans, Michel; Porchet, Nicole; de Pontual, Loïc; Sarnacki, Sabine; Attie-Bitach, Tania; Lyonnet, Stanislas; Holder-Espinasse, Muriel; Amiel, Jeanne.
J Med Genet; 49(12): 737-46, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23188108