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Article

Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.

Pediatric cardiology - 1 Jan 2015

Kimura Masato, Kikuchi Atsuo, Ichinoi Natsuko, Kure Shigeo

Abstract excerpt

Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations in the preaxial radial ray and cardiac septation and/or a conduction abnormality. It has been demonstrated that Holt-Oram syndrome is caused by mutations in the T-box transcription factor gene TBX5. Numerous germline mutations (more than 90) of this gene have been reported; however, TBX5 mutations are only identified in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Atrial

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Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 25274398
DOI: 10.1007/s00246-014-1028-x

Genes

TBX5

Provenance

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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