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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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2021-11-01
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| Schriftenreihe: | BMC Ophthalmology |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12886-021-02166-0 |
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