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Article

Pax6 3' deletion results in aniridia, autism and mental retardation.

Human genetics - 1 May 2008

Davis L K, Meyer K J, Rudd D S, Librant A L, Epping E A, Sheffield V C, Wassink T H

Abstract excerpt

The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retarda...

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Source

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Identifiers

PMID: 18322702
DOI: 10.1007/s00439-008-0484-x
PMCID: PMC2719768

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18322702-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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