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- [24] Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene Journal of Genetics, 2014, 93 : 527 - 530
- [25] A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy Documenta Ophthalmologica, 2023, 147 : 189 - 201
- [26] Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred BMC Medical Genetics, 2016, 17