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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 o...

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Topics

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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 4 Sept 2026. Prepared record publication-15096952-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

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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 ↗

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.Semantic proximity Read ↗

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

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.Semantic proximity Read ↗

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

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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