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A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.

Fertility and sterility - 1 Feb 2010

Corrêa Frederico José Silva, Tavares Adriano Bueno, Pereira Rinaldo Wellerson, Abrão Mauricio Simões

Abstract excerpt

OBJECTIVE: To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. DESIGN: Case report. SETTING: University medical center. PATIENT(S): A 28-year-old woman. INTERVENTION(S): Clinical evaluation, hormone assays, gene mutation research. MAIN OUTCOME MEASURE(S): FOXL2 gene mutation. RESULT(S): The patient with...

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Blepharophimosis
Eyelids
Family Health
Forkhead Box Protein L2
Forkhead Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Primary Ovarian Insufficiency

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Identifiers

PMID: 19969293
DOI: 10.1016/j.fertnstert.2009.08.034

Genes

FOXL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.PMID 19969293Read ↗

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