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Article

The human TBX5 gene mutation database.

Human mutation - 1 Oct 2005

Heinritz Wolfram, Shou Lin, Moschik Andre, Froster Ursula G

Abstract excerpt

Germline mutations of the TBX5 gene were identified as the primary cause in up to 70% of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described in diseased heart tissues of patients with congenital heart defects of different cause. The relationship between...

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Identifiers

PMID: 16134140
DOI: 10.1002/humu.9375

Genes

TBX5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The human TBX5 gene mutation database.PMID 16134140Read ↗

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.Semantic proximity Read ↗

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

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

Identification of deleterious single nucleotide polymorphism (SNP)s on the human <i>TBX5</i> gene & prediction of their structural & functional consequences: An <i>in silico</i> approachSemantic proximity Read ↗

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

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

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.Semantic proximity Read ↗

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

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

Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defectSemantic proximity Read ↗

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

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