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

Abstract 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...

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Autores principales: Yafang Wang, Shu Liu, Yuanqi Zhai, Yang Liu, Xiaoling Wan, Wenqiu Wang, Fenghua Wang, Xiaodong Sun
Formato: article
Lenguaje:EN
Publicado: BMC 2021
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Acceso en línea:https://doaj.org/article/b5641c5b625847eba5a9bd7b03ee1ef7
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