A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II

Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2–5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, ED...

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Vydáno v:Neural Plast
Hlavní autoři: Chen, Sen, Jin, Yuan, Xie, Le, Xie, Wen, Xu, Kai, Qiu, Yue, Bai, Xue, Zhang, Hui-Min, Liu, Xiao-Zhou, Wang, Xiao-Hui, Kong, Wei-Jia, Sun, Yu
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2020
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7474791/
https://ncbi.nlm.nih.gov/pubmed/32908492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/9260807
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