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Article

Genetic dissection of Pax6 dosage requirements in the developing mouse eye.

Human molecular genetics - 1 Aug 2005

Davis-Silberman Noa, Kalich Tomer, Oron-Karni Varda, Marquardt Till, Kroeber Markus, Tamm Ernst R, Ashery-Padan Ruth

Abstract excerpt

Haploinsufficiency of the transcription factor Pax6/PAX6 has been implicated in a number of congenital eye disorders in humans and mice, such as aniridia and Small-eye, which affect the development and function of the lens, cornea, anterior eye segment and neuroretina. However, the widespread distribution of Pax6/PAX6 protein within the developing and adult eye preclude the identification and direct study of the...

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

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Source

Identifiers

PMID: 15987699
DOI: 10.1093/hmg/ddi231

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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