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Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family

BACKGROUND: GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness...

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Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Huang, Shasha, Gao, Xue, Wang, Yufeng, Kang, Dongyang, Zhang, Xin, Yang, Suyan, Dai, Pu
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6996670/
https://ncbi.nlm.nih.gov/pubmed/32090102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6370386
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