Genotype–Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort
Kei Mizobuchi, Taiga Inooka, Takuya Aoki, Hazuki Anzai et autres
PURPOSE: To investigate genotype-phenotype correlations in a nationwide Japanese cohort of patients with RPGRIP1-associated retinal dystrophy. DESIGN: Retrospective, multicenter cohort study. METHODS: Japanese patients with biallelic pathogenic RPGRIP1 variants diagnosed with Leber congenital amaurosis (LCA) or achromatopsia (ACHM) were recruited from university …
jp (code pays fourni par la source)
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American Journal of Ophthalmology