Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

Abstract Background Primary familial brain calcification (PFBC) is a rare inheritable neurodegenerative disease characterized by bilateral calcification in different brain regions and by a range of neuropsychiatric symptoms. Six causative genes of PFBC (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2)...

Full description

Bibliographic Details
Main Authors: Hao Sun, Zhijian Cao, Ruixi Gao, Yulei Li, Rui Chen, Shiyue Du, Tingbin Ma, Junhan Wang, Xuan Xu, Jing Yu Liu
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
migraine
PDGFRB
PFBC
primary familial brain calcification
SLC20A2
Online Access:https://doi.org/10.1002/mgg3.1670

Internet

https://doi.org/10.1002/mgg3.1670

Similar Items