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Article

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.

Molecular vision - 15 Apr 2010

Jia Xiuhua, Guo Xiangming, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Zhang Qingjiong

Abstract excerpt

PURPOSE: To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters' anomaly. METHODS: A 10-month-old male infant, who presented with corneal opacity and nystagmus, was referred to our pediatric clinic and underwent a complete general physical and ophthalmological examination, including anterior segment and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20405024
PMCID: PMC2855731

Genes

PAX6
ERG

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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