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Article

[Holt-Oram syndrome: characterization of a novel mutation].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jun 2006

Fernández García-Moya L, Lapunzina Badía P, Delicado Navarro A, Sharif A, Cross G, Mori Alvarez Ma A, de Torres Perezhidalgo M L, Palomares Bralo M, García Sánchez P, García-Guereta Silva L, López Pajares I

Abstract excerpt

INTRODUCTION: Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16792966
DOI: 10.1157/13089924

Genes

TBX5

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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: characterization of a novel mutation].PMID 16792966Read ↗

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

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

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

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

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

[Holt-Oram syndrome: study of 7 cases].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 ↗

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

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.Semantic proximity Read ↗

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

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

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.Semantic proximity Read ↗

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