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Article

Clinical and genetic study of a pseudo-dominant retinoschisis pedigree: the first female patient reported in Chinese population.

Ophthalmic genetics - 1 Aug 2022

Li Huajin, Li Jing, Huang Yanfeng, Sui Ruifang

Abstract excerpt

BACKGROUND: The inheritance pattern of genetically confirmed hereditary juvenile retinoschisis reported so far is X-linked recessive with limited number of female cases. We identified a female patient with retinoschisis, and this study reports the clinical features as well as the underlying genetic defect of this family. MATERIALS AND METHODS: Detailed family history and pedigree analysis were performed. All...

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PMID: 35189768
DOI: 10.1080/13816810.2022.2042702

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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