title: Genetic factors in isolated and syndromic esophageal atresia.
authors.affiliation: Département de Génétique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Faculté de Médecine de Montpellier-Nimes, Montpellier, France.
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
authors.forename: Loïc
authors.initials: L
authors.lastname: de Pontual
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D001003:Anal Canal / Q000002:abnormalities; D000749:Anemia, Megaloblastic / Q000150:complications; D058747:CHARGE Syndrome / Q000150:complications; D002869:Chromosome Aberrations; D003920:Diabetes Mellitus; D004380:Duodenal Obstruction / Q000150:complications; D004781:Environmental Exposure / Q000009:adverse effects; D004933:Esophageal Atresia / Q000145:classification / Q000150:complications / Q000209:etiology* / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D005199:Fanconi Anemia / Q000150:complications; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D008607:Intellectual Disability; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000150:complications; D018811:Maternal Exposure / Q000009:adverse effects; D008831:Microcephaly / Q000150:complications; D009154:Mutation; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities; D013832:Thiamine Deficiency / Q000151:congenital; D014132:Trachea / Q000002:abnormalities; D014138:Tracheoesophageal Fistula / Q000235:genetics
chemical_list: D007655:Ketoglutarate Dehydrogenase Complex