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Article

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

European journal of human genetics : EJHG - 1 Mar 2011

Doucette Lance, Green Jane, Fernandez Bridget, Johnson Gordon J, Parfrey Patrick, Young Terry-Lynn

Abstract excerpt

Anterior segment dysgenesis (ASD) is a spectrum of disorders that affect the anterior ocular chamber. Clinical studies on a Newfoundland family over the past 30 years show that 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly, segregating as an autosomal do...

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Share to Anterior Eye Segment
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Forkhead Transcription Factors

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Source

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Identifiers

PMID: 21150893
DOI: 10.1038/ejhg.2010.210
PMCID: PMC3062009

Genes

FOXE3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21150893-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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