EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state
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DOI: 10.1002/humu.23206
Abstract: Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from… read more here.
Keywords: waardenburg syndrome; cause waardenburg; mutations cause; type ... See more keywords