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

doi:10.1002/ajmg.c.31591

Article

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

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2017

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

Abstract excerpt

CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or...

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