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Article

A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye.

Biochimica et biophysica acta. Molecular basis of disease - 1 Jan 2017

Wang Xia, Shan Xianghong, Gregory-Evans Cheryl Y

Abstract excerpt

The Pax6 transcription factor is essential for development of the brain, eye, olfactory and endocrine systems. Haploinsufficiency of PAX6 in humans and mice causes the congenital condition aniridia, with defects in each of these organs and systems. Identification of the PAX6 transcription networks driving normal development is therefore critical in understanding the pathophysiology observed with loss-of-function...

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Source

Identifiers

PMID: 27771509
DOI: 10.1016/j.bbadis.2016.10.018

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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