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A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular Block

7 Jul 2020

Abstract excerpt

Congenital heart defect (CHD) represents the most common birth deformity, afflicting 1% of all births worldwide, and accounts for substantial morbidity and mortality. Increasing evidence highlights the pivotal roles of genetic etiologies in the pathogenesis of CHD, and pathogenic mutations in multiple genes, including TBX5 encoding a cardiac core transcription factor key to cardiovascular morphogenesis, have been...

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PMID: 32641638
DOI: 10.1536/ihj.19-650

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