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Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome

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The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. Click to show full abstract

The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families.

Keywords: pax3 sox10; novel mutations; mutations pax3; waardenburg syndrome; genetic causes; two novel

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020

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