Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Sandy Léger(Inserm), X. Balguérie(Université de Rouen Normandie), Alice Goldenberg(Hôpital Charles-Nicolle), Valérie Drouin‐Garraud(Hôpital Charles-Nicolle), Annick Cabot(Hôpital Charles-Nicolle), Isabelle Amstutz-Montadert(Hôpital Charles-Nicolle), Paul Young, P. Joly(Université de Rouen Normandie), Virginie Bodereau(Assistance Publique – Hôpitaux de Paris), Muriel Holder‐Espinasse(Hôpital Jeanne de Flandre), Robyn V. Jamieson(Children's Hospital at Westmead), Amanda Krause(University of the Witwatersrand), Hongsheng Chen(Central South University), Clarisse Baumann(Assistance Publique – Hôpitaux de Paris), Luís Nunes(Hospital de Dona Estefânia), Hélène Dollfus(Hôpital d'Hautepierre), Michel Goossens(Hôpital Albert-Chenevier), Véronique Pingault(Hôpital Albert-Chenevier)
European Journal of Human Genetics
January 18, 2012
Cited by 46Open Access
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