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pro vyhledávání: '"Humberto Vicente Cezar Marcolino"'
Autor:
Eliete Pardono, Naila Cristina Vilaça Lourenço, Paulo Alberto Otto, Leandro Ucela Alves, Regina Célia Mingroni-Netto, Humberto Vicente Cezar Marcolino, Uirá Souto Melo, Magnolia Astrid Pretell Bocangel
Publikováno v:
European Journal of Medical Genetics. 61:348-354
This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 bein