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Article

A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.

Fertility and sterility - 1 Sept 2010

Jorgensen Elisa M, Ruman Jane I, Doherty Leo, Taylor Hugh S

Abstract excerpt

OBJECTIVE: To report a novel mutation found in a family with hand-foot-genital syndrome (HFGS). To characterize the genetic basis of true HFGS versus presence of non-HFGS-related uterovaginal septa. DESIGN: Case-control study. SETTING: Academic medical center. PATIENT(S): The HFGS patients and family members; women with uterine or uterovaginal septa without other sequelae of HFGS. INTERVENTION(S): Sequence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19591980
DOI: 10.1016/j.fertnstert.2009.05.057
PMCID: PMC2889242

Genes

HOXA13

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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