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...
Enregistré dans:
| Auteurs principaux: | , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
BMC
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/b5641c5b625847eba5a9bd7b03ee1ef7 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|