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Article

Assessment of PAX6 alleles in 66 families with aniridia.

Clinical genetics - 1 Jun 2016

Bobilev A M, McDougal M E, Taylor W L, Geisert E E, Netland P A, Lauderdale J D

Abstract excerpt

We report on PAX6 alleles associated with a clinical diagnosis of classical aniridia in 81 affected individuals representing 66 families. Allelic variants expected to affect PAX6 function were identified in 61 families (76 individuals). Ten cases of sporadic aniridia (10 families) had complete (8 cases) or partial (2 cases) deletion of the PAX6 gene. Sequence changes that introduced a premature termination codon...

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Share to Aniridia
Share to Haploinsufficiency
Share to INDEL Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutagenesis, Insertional

Share to PAX6 Transcription Factor

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Source

Open in PubMed Open full text

Identifiers

PMID: 26661695
DOI: 10.1111/cge.12708
PMCID: PMC4873406

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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