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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 Jan 1997

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Identifiers

PMID: 8988164
DOI: 10.1038/ng0197-21

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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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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyPMID 8988164Read ↗

Brachyury and the T-box genes.Semantic proximity Read ↗

Mutation watch: mouse brachyury (T), the T-box gene family, and human disease.Semantic proximity Read ↗

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

A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and DiseaseSemantic proximity Read ↗

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

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.Semantic proximity Read ↗

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

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

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 ↗

Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.Semantic proximity Read ↗

T-box genes in human disorders.Semantic proximity Read ↗

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