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Article

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

Molecular vision - 1 Jan 2012

Haghighi Alireza, Verdin Hannah, Haghighi-Kakhki Hamidreza, Piri Niloofar, Gohari Nasrollah Saleh, De Baere Elfride

Abstract excerpt

PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF). BPES is essentially an autosomal dominant disease, due to mutations in the forkhead box L2 (FOXL2) gene, encoding a forkhead transcription factor. More than one hundred unique FOXL2 mutations have been described in...

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Share to Blepharophimosis
Share to Forkhead Box Protein L2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to Genes, Dominant

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Source

Open in PubMed Open full text

Identifiers

PMID: 22312189
PMCID: PMC3272052

Genes

FOXL2

Variants

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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Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.PMID 22312189Read ↗

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