A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile7...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Niu, Zhijie, Feng, Yong, Mei, Lingyun, Sun, Jie, Wang, Xueping, Wang, Juncheng, Hu, Zhengmao, Dong, Yunpeng, Chen, Hongsheng, He, Chufeng, Liu, Yalan, Cai, Xinzhang, Liu, Xuezhong, Jiang, Lu
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5444825/
https://ncbi.nlm.nih.gov/pubmed/28542515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0178384
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