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Article

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

European journal of medical genetics - 1 Apr 2024

Møller Nielsen Anne Kathrine, Dehn Anna Maria, Hjortdal Vibeke, Larsen Lars Allan

Abstract excerpt

T-Box Transcription Factor 5 (TBX5) variants are associated with Holt-Oram syndrome. Holt-Oram syndrome display phenotypic variability, regarding upper limb defects, congenital heart defects, and arrhythmias. To investigate the genotype-phenotype relationship between TBX5 variants and cardiac disease, we performed a systematic review of the literature. Through the systematic review we identified 108 variants in...

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Share to Abnormalities, Multiple
Share to Heart Defects, Congenital

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

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Identifiers

PMID: 38336121
DOI: 10.1016/j.ejmg.2024.104920

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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