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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| Main Authors: | , , , , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
BMC
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/b5641c5b625847eba5a9bd7b03ee1ef7 |
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