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Article

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Human mutation - 1 Jul 2004

Reamon-Buettner Stella Marie, Borlak Juergen

Abstract excerpt

The T-box transcription factor Tbx5 is important in mammalian cardiac development. Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb deformities. To determine the role of TBX5 in non-HOS patients with complex cardiac malformations, we analyzed 68 explanted hearts from unrelated patients with various cardiac abnormalities including atrial (ASD),...

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Topics

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Share to Abnormalities, Multiple
Share to Heart Defects, Congenital
Share to Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Ventricular

Share to Infant, Newborn

Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 15221798
DOI: 10.1002/humu.9255

Genes

TBX5

Variants

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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TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.PMID 15221798Read ↗

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