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Article

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Clinical orthopaedics and related research - 1 Sept 2007

Debeer Philippe, Race Valerie, Gewillig Marc, Devriendt Koen, Frijns Jean-Pierre

Abstract excerpt

Holt-Oram syndrome (MIM #142900) is an autosomal-dominant disorder characterized by radial ray deformities of the upper limb associated with cardiac septation and/or conduction defects. The disorder is caused by mutations in the transcription factor TBX5. Several studies report a rather low detec...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17534187
DOI: 10.1097/BLO.0b013e3181123ffe

Genes

TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17534187-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Novel TBX5 mutations in patients with Holt-Oram syndrome.PMID 17534187Read ↗

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

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

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.Semantic proximity Read ↗

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.Semantic proximity Read ↗

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

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsSemantic 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 ↗

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.Semantic proximity Read ↗

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