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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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Detalles Bibliográficos
Autores principales: Huang, Shasha, Gao, Xue, Wang, Yufeng, Kang, Dongyang, Zhang, Xin, Yang, Suyan, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996670/
https://www.ncbi.nlm.nih.gov/pubmed/32090102
http://dx.doi.org/10.1155/2020/6370386