Article
Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.
Clinical genetics - 1 Apr 2020
Wei Wei, Li Bojian, Li Fen, Sun Kun, Jiang Xuechao, Xu Rang
Abstract excerpt
Conotruncal heart defects (CTD) are an important subtype of congenital heart disease that occur due to abnormality in the development of the cardiac outflow tract (OFT). FOXH1 is a transcription factor that participates in the morphogenesis of the right ventricle and OFT. In this study, we confirmed the expression of FOXH1 in mouse and human embryos during OFT development. We also scanned the coding exons and...
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