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Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
Am J Hum Genet. 1996 Jul;59(1):76-83.
Am J Hum Genet. 1996.
PMID: 8659547
Free PMC article.
Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.
Lalwani AK, Attaie A, Randolph FT, Deshmukh D, Wang C, Mhatre A, Wilcox E.
Lalwani AK, et al.
Am J Med Genet. 1998 Dec 4;80(4):406-9.
Am J Med Genet. 1998.
PMID: 9856573
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