Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
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DOI: 10.1089/gtmb.2016.0421
Abstract: Objectives: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cau... read more here.
Keywords: heterozygous deletion; deletion sox10; waardenburg syndrome; identification novel ... See more keywords