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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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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... Click to show full 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...

Keywords: heterozygous deletion; deletion sox10; waardenburg syndrome; identification novel; novel novo; novo heterozygous

Journal Title: Genetic Testing and Molecular Biomarkers
Year Published: 2017

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