Novel variants in the PAX6 gene related to isolated aniridia.

doi:10.1111/cga.12520

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Article

Novel variants in the PAX6 gene related to isolated aniridia.

Congenital anomalies - 1 Jul 2023

Kuchalska Katarzyna, Wawrocka Anna, Krawczynski Maciej R

Abstract excerpt

Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by autosomal dominant PAX6 gene mutations. However, in about 30% of cases, it is associated with chromosomal rearrangements in the 11p13 region. The aim of this study was to identify the potential PAX6 gene variants, which could cause the isolated...

Topics

Humans
PAX6 Transcription Factor
Paired Box Transcription Factors
Mouth Mucosa
Aniridia
Eye Abnormalities
Mutation
Homeodomain Proteins
Pedigree

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Open in PubMed

Identifiers

PMID: 37191119
DOI: 10.1111/cga.12520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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