Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

PURPOSE: The PROM1 p.Arg373Cys variant has been reported to cause dominant Stargardt disease, cone–rod dystrophy, and occasionally retinitis pigmentosa. This study aimed to evaluate the common phenotype associated with this variant in Chinese patients. METHODS: Variants in PROM1 were collected from...

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Detalles Bibliográficos
Autores principales: Wang, Yingwei, Wang, Panfeng, Li, Shiqiang, Ouyang, Jiamin, Jia, Xiaoyun, Xiao, Xueshan, Yang, Junxing, Li, Xueqing, Sun, Wenmin, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142721/
https://www.ncbi.nlm.nih.gov/pubmed/34008001
http://dx.doi.org/10.1167/iovs.62.6.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142721/
https://www.ncbi.nlm.nih.gov/pubmed/34008001
http://dx.doi.org/10.1167/iovs.62.6.19

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