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

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 coding...

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Publicado no:Mol Genet Genomic Med
Main Authors: Yu, Yongbo, Liu, Wei, Chen, Min, Yang, Yang, Yang, Yeran, Hong, Enyu, Lu, Jie, Zheng, Jun, Ni, Xin, Guo, Yongli, Zhang, Jie
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216796/
https://ncbi.nlm.nih.gov/pubmed/32168437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1217
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