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Article

The human FOXL2 mutation database.

Human mutation - 1 Sept 2004

Beysen Diane, Vandesompele Jo, Messiaen Ludwine, De Paepe Anne, De Baere Elfride

Abstract excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM# 110100) is an autosomal dominant genetic condition in which an eyelid malformation is associated (type I) or not associated (type II) with premature ovarian failure (POF). In 2001, mutations in the FOXL2 gene, encoding a forkhead transcription factor, were shown to cause both BPES type I and II. Since then, a number of reports have appeared that...

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Share to Chromosomes, Human, Pair 3
Share to Forkhead Box Protein L2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15300845
DOI: 10.1002/humu.20079

Genes

FOXL2

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.

Related research

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The human FOXL2 mutation database.PMID 15300845Read ↗

FOXL2 mutations and genomic rearrangements in BPES.Semantic proximity Read ↗

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Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.Semantic proximity Read ↗

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.Semantic proximity Read ↗

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