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Article

PAX6 mutations: genotype-phenotype correlations.

BMC genetics - 26 May 2005

Tzoulaki Ioanna, White Ian M S, Hanson Isabel M

Abstract excerpt

BACKGROUND: The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases. PAX6 mutations are archived in the Human PAX6 Allelic Variant Database, which currently contains 309 records, 286 of which are mutations in patients...

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Identifiers

PMID: 15918896
DOI: 10.1186/1471-2156-6-27
PMCID: PMC1156885

Genes

PAX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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