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Article

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

American journal of medical genetics. Part A - 1 May 2014

Bogarapu Soujanya, Bleyl Steven B, Calhoun Amy, Viskochil David, Saarel Elizabeth V, Everitt Melanie D, Frank Deborah U

Abstract excerpt

The important roles that T-box genes play in the morphogenesis of the heart and its conduction system has long been established, and a number of disorders are linked to mutations in these T-box genes. Holt-Oram syndrome (HOS), the classic heart and hand syndrome, is clinically typified by radial ray upper limb abnormalities and cardiac malformations, and is caused by mutations involving TBX5. Another member of...

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Source

Identifiers

PMID: 24664963
DOI: 10.1002/ajmg.a.36447

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.

Related research

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Research trail→

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Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.PMID 24664963Read ↗

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

Current advances in Holt-Oram syndrome.Semantic proximity Read ↗

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

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

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Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.Semantic proximity Read ↗

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

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.Semantic proximity Read ↗

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