Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

Cen, ZD; Chen, Y; Chen, S; Wang, H; Yang, DH; Zhang, HM; Wu, HW; Wang, LB; Tang, SY; Ye, J; Shen, J; Wang, HT; Fu, F; Chen, XH; Xie, F; Liu, P; Xu, X; Cao, JZ; Cai, P; Pan, QQ; Li, JY; Yang, W; Shan, PF; Li, YZ; Liu, JY; Zhang, BR; Luo, W

Luo, W (corresponding author), Zhejiang Univ, Affiliated Hosp 2, Sch Med, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China.

BRAIN, 2020; 143 (): 491

Abstract

Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other brain regions, an......

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