Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification
Primary familial brain calcification (PFBC, OMIM#213600), also known as Fahr's disease, is characterized by bilateral and symmetric brain calcification in the basal ganglia (globus pallidus, caudate nucleus, and putamen), thalamus, subcortical white matter, and cerebellum. PFBC can be caused by...
Main Authors: | Yuqi Shen, Shi Shu, Yaqiong Ren, Weibo Xia, Jianhua Chen, Liling Dong, Haijun Ge, Shiqi Fan, Lei Shi, Bin Peng, Xue Zhang |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2021-05-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.643452/full |
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