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GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose cl...

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Detalles Bibliográficos
Autores principales:	Xia, Hong, Huang, Xiangjun, Xu, Hongbo, Zhou, Yong-an, Gong, Lina, Yang, Zhijian, Lv, Jingyan, Deng, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2019
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428124/ https://www.ncbi.nlm.nih.gov/pubmed/30816908 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0318

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