Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

BACKGROUND: Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod...

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Detalles Bibliográficos
Autores principales: Wang, Yafang, Liu, Shu, Zhai, Yuanqi, Liu, Yang, Wan, Xiaoling, Wang, Wenqiu, Wang, Fenghua, Sun, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605601/
https://www.ncbi.nlm.nih.gov/pubmed/34800980
http://dx.doi.org/10.1186/s12886-021-02166-0

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