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Article

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

American journal of human genetics - 5 Dec 2013

Bhatia Shipra, Bengani Hemant, Fish Margaret, Brown Alison, Divizia Maria Teresa, de Marco Riccardo, Damante Guiseppe, Grainger Robert, van Heyningen Veronica, Kleinjan Dirk A

Abstract excerpt

The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene commonly ass...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24290376
DOI: 10.1016/j.ajhg.2013.10.028
PMCID: PMC3852925

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24290376-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.PMID 24290376Read ↗

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