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pro vyhledávání: '"May Tassabejhi"'
Autor:
S H Blanton, Lindsay A. Farrer, Andrew P. Read, Thomas B. Friedman, Edward R. Wilcox, Melisa L. Carey, Elias O. da Silva, Anil K. Lalwani, L. Adrienne Cupples, Arti Pandya, Kathleen S. Arnos, Clinton T. Baldwin, Jacquie Greenberg, James H. Asher, Rajkumar Ramesar, Aubrey Milunsky, Walter E. Nance, May Tassabejhi, Anita L. DeStefano
Publikováno v:
Human Genetics. 102:499-506
Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibi