Mandibulofacial dysostosis

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Bruno Delobel, Klaus Dieterich, Dominique Gaillard, Marie Gonzales, Didier Lacombe, Fabienne Escande, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju G. Mehta, Ingrid Simonic, Arnold Munnich, Michel Vekemans, Nicole Porchet, Loïc de Pontual, Sabine Sarnacki, Tania Attie-Bitach, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel

Journal of Medical Genetics Dec 2012, 49 (12) 737-746; DOI: 10.1136/jmedgenet-2012-101173

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Mandibulofacial dysostosis