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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous varia...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6348282/ https://ncbi.nlm.nih.gov/pubmed/30774966 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0037-y |
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