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Article

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract.

Molecular vision - 1 Jan 2012

Wang Kai Jie, Zhu Si Quan

Abstract excerpt

PURPOSE: To identify the genetic defect in a Chinese family with bilateral congenital cataract. METHODS: A three-generation family was recruited in this study. Detailed family history and clinical data were recorded. Ten candidate genes were screened for causative mutations. Direct sequencing was performed to analyze the cosegregation of the genotype with the disease phenotype. RESULTS: Affected individuals...

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PMID: 22550389
PMCID: PMC3339038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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