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Article

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

American journal of human genetics - 1 Jul 2000

Goodman F R, Bacchelli C, Brady A F, Brueton L A, Fryns J P, Mortlock D P, Innis J W, Holmes L B, Donnenfeld A E, Feingold M, Beemer F A, Hennekam R C, Scambler P J

Abstract excerpt

Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. In families...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Homeobox

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Source

Open in PubMed Open full text

Identifiers

PMID: 10839976
DOI: 10.1086/302961
PMCID: PMC1287077

Genes

HOXA13

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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