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

Internet

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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