Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, Fu F, Chen X, Xie F, Liu P, Xu X, Cao J, Cai P, Pan Q, Li J, Yang W, Shan PF, Li Y, Liu JY, Zhang B, Luo W.
Cen Z, et al.
Brain. 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392.
Brain. 2020.
PMID: 31851307
Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other brain regions, and commonly presents motor, psychiatric, and cognitive symptoms. ...This is similar to the mechanisms of other causat …
Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other …