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Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

30 Oct 2020

Abstract excerpt

PURPOSE: To provides the clinical and genetic characteristics of a series of Chinese patients with X-linked juvenile retinoschisis (XLRS) through multimodal imaging and next-generation sequencing. METHODS: Thirty patients (60 eyes) from 29 unrelated families of Chinese origin with XLRS were screened using multigene panel testing, and underwent a complete clinical evaluation. All variants identified in this study...

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PMID: 33124204
DOI: 10.1111/aos.14642

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