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Article

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

Clinical & experimental ophthalmology - 1 Dec 2016

Krepelova Anna, Simandlova Martina, Vlckova Marketa, Kuthan Pavel, Vincent Andrea L, Liskova Petra

Abstract excerpt

BACKGROUND: Mutations in FOXL2 are known to cause autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), variably associated with premature ovarian failure. In this study, we report results of mutational screening in a Czech and Slovak patient population with BPES. DESIGN: Case series. PARTICIPANTS: Thirteen probands of Czech and one proband of Slovak origin with BPES and their available...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Box Protein L2

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Source

Identifiers

PMID: 27283035
DOI: 10.1111/ceo.12783

Genes

FOXL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.PMID 27283035Read ↗

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