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Article

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

American journal of medical genetics. Part A - 1 Sept 2012

Schlade-Bartusiak Kamilla, Brown Lindsay, Lomax Brenda, Bruyère Hélène, Gillan Tanya, Hamilton Sara, McGillivray Barbara, Eydoux Patrice

Abstract excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder characterized by a complex dysgenesis of the eyelids and premature ovarian insufficiency. FOXL2 located at 3q22.3, encoding a forkhead transcription factor, is the only gene known to be responsible for BPES. We describe a patient diagnosed with BPES with atypical ovarian failure, characterized by normal levels of...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22887799
DOI: 10.1002/ajmg.a.35516

Genes

FOXL2

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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