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Article

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

American journal of human genetics - 1 Jun 2003

Azuma Noriyuki, Yamaguchi Yuki, Handa Hiroshi, Tadokoro Keiko, Asaka Atsuko, Kawase Eriko, Yamada Masao

Abstract excerpt

The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia. However, it has not been identified in patients with optic-nerve malformations. Here, we...

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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: 12721955
DOI: 10.1086/375555
PMCID: PMC1180317

Genes

PAX6
PAX2

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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