Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre, Marine; Abadie, Véronique; Attié-Bitach, Tania; Philip, Nicole; Busa, Tiffany; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Lacombe, Didier; Toutain, Annick; Blesson, Sophie; Julia, Sophie; Martin-Coignard, Dominique; Geneviève, David; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Mercier, Sandra; Faivre, Laurence; Vincent-Delorme, Catherine; Francannet, Christine; Naudion, Sophie; Mathieu-Dramard, Michèle; Delrue, Marie-Ange; Goldenberg, Alice; Héron, Delphine; Parent, Philippe; Touraine, Renaud; Layet, Valérie; Sanlaville, Damien; Quélin, Chloé; Moutton, Sébastien; Fradin, Mélanie; Jacquette, Aurélia; Sigaudy, Sabine; Pinson, Lucile; Sarda, Pierre; Guerrot, Anne-Marie; Rossi, Massimiliano; Masurel-Paulet, Alice; El Chehadeh, Salima; Piguel, Xavier; Rodriguez-Ballesteros, Montserrat; Ragot, Stéphanie; Lyonnet, Stanislas; Bilan, Frédéric; Gilbert-Dussardier, Brigitte.
Am J Med Genet C Semin Med Genet; 175(4): 417-430, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29178447