共 50 条
- [22] Phenotype of autosomal dominant cone–rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1 Eye, 2007, 21 : 1220 - 1225
- [23] A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis European Journal of Human Genetics, 2010, 18 : 1121 - 1126
- [28] Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy Documenta Ophthalmologica, 2023, 146 : 267 - 272