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Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is e...
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| 發表在: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
MDPI
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6947566/ https://ncbi.nlm.nih.gov/pubmed/31766397 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10120953 |
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