DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M.
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;
59 (01) 76-83
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