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Article

[Blepharophimosis-ptosis-epicanthus inversus syndrome].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti - 1 Jan 2000

Lišková P, Ďuďáková Ľ, Diblík P

Abstract excerpt

PURPOSE: To report the ocular phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Ophthalmological examination of a 36 year-old proband and detailed family history evaluation, including assessment of available facial photographs of affected relatives, was performed. RESULTS: There were four affected males and one female in three generations. The proband underwent two surgical eyelid...

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Source

Identifiers

PMID: 28224805

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.

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