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Mutational spectrum in a Chinese cohort with congenital cataracts.

Molecular genetics & genomic medicine - 1 Sept 2023

Liu Hong-Li, Zhang Dao-Wei, Hu Fang-Yuan, Xu Ping, Zhang Sheng-Hai, Wu Ji-Hong

Abstract excerpt

BACKGROUND: To identify the mutational spectrum in a Chinese cohort with congenital cataracts. METHODS: Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel-based next-generation sequencing, then classified into a cohort for further mutational analysis. RESULTS: After recruitment (n = 442; 228 males and 214...

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Pedigree
Cataract
Connexins and lens biology
East Asian People
Intraocular Surgery and Lenses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Ocular Disorders and Treatments

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PMID: 37337769
DOI: 10.1002/mgg3.2196
PMCID: PMC10496047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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