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Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss
Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss. We investigated a consanguineous family in which two individuals had prelignual hearing loss, apparently inherited in a recessive mode. Whole-exome sequencing analyses demonstrated genetic heteroge...
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| 出版年: | Gene |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7709079/ https://ncbi.nlm.nih.gov/pubmed/31028865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2019.04.064 |
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