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Article

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Nature genetics - 1 Jul 1997

Bamshad M, Lin R C, Law D J, Watkins W C, Krakowiak P A, Moore M E, Franceschini P, Lala R, Holmes L B, Gebuhr T C, Bruneau B G, Schinzel A, Seidman J G, Seidman C E, Jorde L B

Abstract excerpt

Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9207801
DOI: 10.1038/ng0797-311

Genes

TBX3
TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.PMID 9207801Read ↗

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The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.Semantic proximity Read ↗

TBX3- Related Disorder.Semantic proximity Read ↗

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.Semantic proximity Read ↗

Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.Semantic proximity Read ↗

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.Semantic proximity Read ↗

Ulnar-Mammary syndrome with TBX3 gene mutation in a Chinese family: A case report and literature review.Semantic proximity Read ↗

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Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.Semantic proximity Read ↗

Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.Semantic proximity Read ↗

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.Semantic proximity Read ↗

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

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