Article

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families

2025-11-11

Abstract excerpt

<title>Abstract</title> <p>Purpose X-linked retinoschisis (XLRS) is an X-linked recessive (XLR) inherited retinal disease. Accurate diagnosis of XLRS is difficult because of its diverse clinical presentations and genetic heterogeneity. However, molecular methods can aid in making an accurate diagnosis, especially for patients with no typical pathologic symptoms. The aim of this study was to identify genetic defec...

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Literature Corpus work: 955a5e89-0b3d-57ce-b7b4-b7c2a930b17b
DOI: 10.21203/rs.3.rs-7707717/v1

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