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Article

Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.

Molecular vision - 1 Jan 2012

Kang Yang, Lin Ying, Li Xue, Wu Qiong, Huang Lei, Li Qingjun, Hu Qi

Abstract excerpt

PURPOSE: Haplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. This study aimed to identify novel PAX6 mutations that lead to familial and sporadic aniridia in northeastern China. METHODS: Two aniridia patients from a family and a sporadic patient underwent full ophthalmologic...

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Source

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Identifiers

PMID: 22815628
PMCID: PMC3398500

Genes

PAX6
CGA

Variants

Provenance

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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