The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling

摘要

A The ~2.5 Mb deletion region on chromosome 8p23.1 of the atrioventricular septal defect (AVSD) patient, which contains the Sox7 gene. B qPCR verification showed that the 8p23.1 deletion in the proband was not inherited from parents. C the mRNA expression of genes within the 2.5 Mb deletion in mice embryo hearts at E9.5 detected by qPCR (n = 3).