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Article

A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.

Scientific reports - 2 May 2014

Zhuang Jianfu, Chen Xiaole, Tan Zhihua, Zhu Yihua, Zhao Kanxing, Yang Juhua

Abstract excerpt

Aniridia is a congenital panocular disorder caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with aniridia and other ocular abnormalities, we recruited the family members who underwent ophth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24787241
DOI: 10.1038/srep04836
PMCID: PMC4007070

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24787241-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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