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Article

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

European journal of human genetics : EJHG - 1 Aug 2012

Patel Chirag, Silcock Lee, McMullan Dominic, Brueton Louise, Cox Helen

Abstract excerpt

Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand syndrome due to mutations in the TBX5 transcription factor. Affected individuals can have structural cardiac defects and/or conduction abnormalities, and exclusively upper limb defects (typically bilateral, asymmetrical radial ray defects). TBX5 mutations reported include nonsense, missense, splicing mutations and exon deletions. Most result in a...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 12

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

Share to Comparative Genomic Hybridization

Share to Gene Duplication

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Atrial

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Share to Upper Extremity Deformities, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 22333898
DOI: 10.1038/ejhg.2012.16
PMCID: PMC3400730

Genes

TBX5

Provenance

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.

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