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

Abstract Background 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. Methods PAX3 and SOX10 were the main pathogenic genes for WS type I (WS I) and IV (WS IV), respectively; all...

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Hauptverfasser:	Yongbo Yu, Wei Liu, Min Chen, Yang Yang, Yeran Yang, Enyu Hong, Jie Lu, Jun Zheng, Xin Ni, Yongli Guo, Jie Zhang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2020-05-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	hearing loss PAX3 SOX10 Waardenburg syndrome
Online-Zugang:	https://doi.org/10.1002/mgg3.1217
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