Article

Upregulation of TBX1 by genetic variants are associated with human congenital heart disease

2021-07-24

Abstract excerpt

Congenital heart disease (CHD) is the most common human birth defect worldwide and also an important cause of childhood morbidity and mortality. The transcription factor of TBX1 early expressed in embryonic cardiac progenitor cells underlys embryo cardiogenesis in a dosage-dependent manner. Imbalanced TBX1 level has been shown to lead to cardiac defects. To study the association of TBX1 genetic variants with CHD s...

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Literature Corpus work: fbec0e7f-6470-509a-947f-07665b3263bc
DOI: 10.1101/2021.07.21.21260948

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