Associated Papers
CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability.
Hirakata T et al.
Frontiers in Ophthalmology, 2026
The pathogenicity of a novel frame-shift variant c.2321delC of PROM1 in an autosomal recessive cone-rod dystrophy pedigree may be associated with augment of autophagy.
Wu C et al.
Experimental Eye Research, 2025
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
Fujinami K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Arai Y et al.
Journal of Ophthalmology, 2015
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