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Article

FOXL2 mutations and genomic rearrangements in BPES.

Human mutation - 1 Feb 2009

Beysen Diane, De Paepe Anne, De Baere Elfride

Abstract excerpt

The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (POF). In addition, a few mutations have been described in...

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Source

Identifiers

PMID: 18726931
DOI: 10.1002/humu.20807

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.

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FOXL2 mutations and genomic rearrangements in BPES.PMID 18726931Read ↗

The human FOXL2 mutation database.Semantic proximity Read ↗

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The mutations and potential targets of the forkhead transcription factor FOXL2.Semantic proximity Read ↗

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