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Article

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Human mutation - 1 Oct 2009

Iseri Sibel Ugur, Osborne Robert J, Farrall Martin, Wyatt Alexander William, Mirza Ghazala, Nürnberg Gudrun, Kluck Christian, Herbert Helen, Martin Angela, Hussain Muhammad Sajid, Collin J Richard O, Lathrop Mark, Nürnberg Peter, Ragoussis Jiannis, Ragge Nicola K

Abstract excerpt

FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. Here, we identify new recessive FOXE3 mutations causative for microphthalmia, sclerocornea, primary aphakia, and glaucoma in two extended consanguineous families by SNP array genotyping followed by a candidate gene approach. Following an...

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Source

Identifiers

PMID: 19708017
DOI: 10.1002/humu.21079

Genes

FOXE3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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