Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families
Summary
This is the first report of the clinical phenotype of CRX mutation (p.R41W) in Chinese families, and the mutation can lead to a wide range of various retinal phenotypes. International Journal of Ophthalmology Press.
| Authors | Cui H, Jin X, Yang QH, Qu LH, Hou BK, Li ZH, Huang HB |
|---|---|
| Journal | International journal of ophthalmology |
| Publication Date | 2022;15(12):1915-1923 |
| PubMed | 36536961 |
| PubMed Central | PMC9729094 |
| DOI | 10.18240/ijo.2022.12.04 |