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Article

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Current opinion in cardiology - 1 May 2004

Mori Alessandro D, Bruneau Benoit G

Abstract excerpt

PURPOSE OF REVIEW: Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), an autosomal-dominant condition characterized by a familial history of congenital heart defects and preaxial radial ray upper limb defects. This review summarizes recent developments in the study of TBX5 as it relates to congenital heart disease and the pathology of HOS. RECENT FINDINGS: Currently, 37 mutations in...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15096952
DOI: 10.1097/00001573-200405000-00004

Genes

TBX5

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.

Related research

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TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.PMID 15096952Read ↗

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

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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.Semantic proximity Read ↗

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Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.Semantic proximity Read ↗

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.Semantic proximity Read ↗

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.Semantic proximity Read ↗

[Holt-Oram syndrome: characterization of a novel mutation].Semantic proximity Read ↗

Novel TBX5 mutations in patients with Holt-Oram syndrome.Semantic proximity Read ↗

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Semantic proximity Read ↗

Identification of new mutations in the TBX<i>5</i> gene in patients with Holt-Oram syndromeSemantic proximity Read ↗

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