Heterozygous loss-of-function
Ping Ye, Wenhao Chen, Jie Wu, Xiaofan Huang, Jun Li, Sihua Wang, Zheng Liu, Guohua Wang, Xiao Yang, Peng Zhang, Qiulun Lv, Jiahong Xia
SMAD3 mutations in a family with AOS and the aorta tissue from 1 case showed inflammatory infiltration and increased GM-CSF expression.