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Article

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Journal of medical genetics - 1 Jul 2009

Laissue P, Lakhal B, Benayoun B A, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saâd A, Sultan C, Fellous M, Veitia R A

Abstract excerpt

BACKGROUND: FOXL2 encodes a forkhead transcription factor whose mutations are responsible for the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), involving craniofacial/palpebral abnormalities often associated with premature ovarian failure (POF). RESULTS: We describe a FOXL2 variant...

Read the complete abstract on PubMed

Topics

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Share to Amino Acid Substitution
Share to Forkhead Box Protein L2
Share to Forkhead Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Primary Ovarian Insufficiency

Share to Promoter Regions, Genetic

Share to Sequence Alignment

Share to Transcription Factors

Source

Identifiers

PMID: 19429596
DOI: 10.1136/jmg.2008.065086

Genes

FOXL2
OSR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19429596-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.PMID 19429596Read ↗

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