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TITLE: Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes  Full Text
AUTHORS: Sandy Leger; Xavier Balguerie; Alice Goldenberg; Valerie Drouin Garraud; Annick Cabot; Isabelle Amstutz Montadert; Paul Young; Pascal Joly; Virginie Bodereau; Muriel Holder Espinasse; Robyn V Jamieson; Amanda Krause; Hongsheng S Chen; Clarisse Baumann; Luis Nunes; Helene Dollfus; Michel Goossens; Veronique Pingault;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes  Full Text
AUTHORS: Sandy Léger; Xavier Balguerie; Alice Goldenberg; Valérie Drouin-Garraud; Annick Cabot; Isabelle Amstutz-Montadert; Paul Young; Pascal Joly; Virginie Bodereau; Muriel Holder-Espinasse; Robyn V Jamieson; Amanda Krause; Hongsheng Chen; Clarisse Baumann; Luis Nunes; Hélène Dollfus; Michel Goossens; Véronique Pingault;
PUBLISHED: 2012, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 20, ISSUE: 5
INDEXED IN: CrossRef