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Article

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

Molecular vision - 1 Jan 2018

Souzeau Emmanuelle, Rudkin Adam K, Dubowsky Andrew, Casson Robert J, Muecke James S, Mancel Erica, Whiting Mark, Mills Richard A D, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

Purpose: Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia. Methods: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included. The PAX6 gene was investigated for sequence variants and analyzed...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29618921
PMCID: PMC5873721

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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