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心脏圆锥动脉干畸形是婴幼儿期常见的青紫型先天性心脏病,主要由于胚胎期心脏发育异常所致。现综述TBX1基因在心脏发育过程中的作用以及可能的作用机制等国内外近几年的研究进展,旨在揭示TBX1基因与心脏圆锥动脉干畸形的关联。
Conotruncal deformity of the heart is common in infants and young children with cyanotic congenital heart disease, mainly due to abnormal fetal cardiac development. The progress of TBX1 gene in cardiac development and its possible mechanism are reviewed in recent years. The aim of this study is to reveal the association between TBX1 gene and congenital heart disease in the heart.