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Article

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

Human mutation - 1 Sept 2003

Udar Nitin, Yellore Vivek, Chalukya Meenal, Yelchits Svetlana, Silva-Garcia Rosamaria, Small Kent

Abstract excerpt

Bleparophimosis ptosis epicanthus inversus syndrome (BPES) is a rare disorder characterized by eyelid malformation and in some cases associated with premature ovarian failure. Although the familial form is autosomal dominant, many cases are also sporadic. The mutations causing this disorder were found in a winged/forkhead transcription factor gene named FOXL2. We have sequenced the mouse homolog for the FOXL2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12938087
DOI: 10.1002/humu.10251

Genes

FOXL2

Variants

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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Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.PMID 12938087Read ↗

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