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PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family
PURPOSE: To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. METHODS: A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family mem...
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| Publicado en: | J Ophthalmol |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Hindawi
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5564071/ https://ncbi.nlm.nih.gov/pubmed/28848678 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/4156386 |
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