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A novel heterozygous c.733 T > G MYOC mutation associated with juvenile-onset open-angle glaucoma in a Chinese family.

Eye (London, England) - 1 Aug 2023

Dai Aiai, Cheng Xuan, Wang Weifeng, Li Runpu, Gao Xuhui, Li Shuxian, Liu Tiecheng

Abstract excerpt

AIMS: To detect mutations in juvenile-onset open-angle glaucoma in a Chinese family and to describe the characteristic ophthalmic phenotypes of this pedigree. METHODS: There were 14 individuals in this four-generation pedigree. All living members of the family underwent comprehensive ophthalmic examinations. Five patients presented with elevated intraocular pressures. All of them shared early-onset disease, with...

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Identifiers

PMID: 36543942
DOI: 10.1038/s41433-022-02359-x
PMCID: PMC10397252

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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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