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Article

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.

Molecular vision - 1 Jan 2012

Jin Chongfei, Wang Qiwei, Li Jinyu, Zhu Yanan, Shentu Xingchao, Yao Ke

Abstract excerpt

PURPOSE: Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS: A detailed family history and clinical data from patients were collected by ophthalmologic examination, including visual acuity, slit-lamp examination, tonometer,...

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Source

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Identifiers

PMID: 22393272
PMCID: PMC3291521

Genes

PAX6

Variants

Provenance

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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