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Article

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

International journal of dermatology - 1 Jan 2007

Leon-Mateos Alvaro, Ginarte Manuel, Ruiz-Ponte Clara, Carracedo Angel, Toribio Jaime

Abstract excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene. Molecular...

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Source

Identifiers

PMID: 17214723
DOI: 10.1111/j.1365-4632.2007.03066.x

Genes

FOXL2

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).PMID 17214723Read ↗

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

A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.Semantic proximity Read ↗

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.Semantic proximity Read ↗

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.Semantic proximity Read ↗

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.Semantic proximity Read ↗

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

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

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.Semantic proximity Read ↗

FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

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