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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Detalles Bibliográficos
Autores principales: Meng, Xiaohong, Li, Qiyou, Guo, Hong, Xu, Haiwei, Li, Shiying, Yin, Zhengqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564071/
https://www.ncbi.nlm.nih.gov/pubmed/28848678
http://dx.doi.org/10.1155/2017/4156386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564071/
https://www.ncbi.nlm.nih.gov/pubmed/28848678
http://dx.doi.org/10.1155/2017/4156386

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