Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
Léger S,Balguerie X,Goldenberg A,Drouin-Garraud V,Cabot A,Amstutz-Montadert I,Young P,Joly P,Bodereau V,Holder-Espinasse M,Jamieson R,Krause A,Chen H,Baumann C,Nunes L,Dollfus H,Goossens M,Pingault V
Source :
2012 Jan 18
Pmid / DOI:
10.1038/ejhg.2011.234