Autor: Huihui Sun
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Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novel RP2 gene mutation
BackgroundThis study characterizes a Chinese X-linked retinitis pigmentosa (XLRP) pedigree harboring a pathogenic variant of the RP2 gene and presents the findings from 8-years follow-up with the aim of exploring the genotypic and phenotypic spectra.Me…
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Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort
PurposeThis study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients.MethodsThis study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. …