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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...
保存先:
| 出版年: | Genet Mol Biol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sociedade Brasileira de Genética
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6428124/ https://ncbi.nlm.nih.gov/pubmed/30816908 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2017-0318 |
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