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Article

A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report.

Human reproduction (Oxford, England) - 1 Dec 2004

Gersak Ksenija, Harris Sarah E, Smale Wendy J, Shelling Andrew N

Abstract excerpt

In a Slovene patient with primary amenorrhoea without an association with blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a novel 30 bp deletion was identified in the FOXL2 gene. We report the clinical features of this woman who has spontaneously conceived and delivered two live healthy babies. The novel deletion was predicted to remove 10 out of 14 alanines (A221_A230del), from the polyalanine tract...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follicle Stimulating Hormone

Share to Forkhead Box Protein L2

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Source

Identifiers

PMID: 15459170
DOI: 10.1093/humrep/deh496

Genes

FOXL2

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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A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report.PMID 15459170Read ↗

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