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Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants
BACKGROUND: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients MATERIALS AND METHODS: Detailed clinical evaluations were performed and genomic D...
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| 出版年: | Ophthalmic Genet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6239416/ https://ncbi.nlm.nih.gov/pubmed/29952689 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2018.1466337 |
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