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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.
Affiliation
  • Gordon CT; Unité INSERM U781, Faculté Paris-Descartes, Institut IMAGINE, Paris, France.
J Med Genet ; 49(12): 737-46, 2012 Dec.
Article in En | MEDLINE | ID: mdl-23188108
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factors / Esophageal Atresia / Haploinsufficiency Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Med Genet Year: 2012 Document type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peptide Elongation Factors / Esophageal Atresia / Haploinsufficiency Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Med Genet Year: 2012 Document type: Article Affiliation country: France