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Article

A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.

Annals of clinical and laboratory science - 1 Jan 2015

Chang Mi Sun, Han Jong Chul, Lee Jieun, Kwun Younghee, Huh Rimm, Ki Chang-Seok, Kee Changwon, Cho Sung Yoon, Jin Dong-Kyu

Abstract excerpt

Aniridia is a rare congenital ocular disorder of complete or partial iris hypoplasia. Frequently associated ocular changes include corneal abnormalities, cataract, glaucoma, and foveal hypoplasia. In most cases, aniridia is caused by decreased dosage of the paired box 6 (PAX6) gene, which is located in chromosome 11p13. We report the case of a Korean family with isolated aniridia inherited in an autosomal...

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Identifiers

PMID: 25696017

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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