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Article

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Investigative ophthalmology & visual science - 1 Jun 2009

Hingorani Melanie, Williamson Kathleen A, Moore Anthony T, van Heyningen Veronica

Abstract excerpt

PURPOSE: Heterozygous mutations of the PAX6 gene cause a variety of ocular malformations, the best known being aniridia (absence of the iris). Mutation analyses and detailed clinical evaluations were performed in 43 individuals with aniridia or closely related ocular anomalies, to investigate whether phenotype correlates with mutation type. METHODS: Case notes and medical records were reviewed and patients were...

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Source

Identifiers

PMID: 19218613
DOI: 10.1167/iovs.08-2827

Genes

PAX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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