Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
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DOI: 10.1002/mgg3.1128
Abstract: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. read more here.
Keywords: identification six; syndrome type; waardenburg syndrome; six novel ... See more keywords