Yuqi Shen Shi Shu Yaqiong Ren Weibo Xia Jianhua Chen Liling Dong Haijun Ge Shiqi Fan Lei Shi Bin Peng Xue Zhang
10.3389/fgene.2021.643452
Front Genet
2021 May 7;12:643452.
pdgfb pfbc slc20a2 mutation primary familial brain calcification
CC BY
https://pubmed.ncbi.nlm.nih.gov/34025715/
Case Reports
PMC8138311
34025715
Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification
2021