Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification

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...

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Bibliographic Details
Main Authors: Yuqi Shen, Shi Shu, Yaqiong Ren, Weibo Xia, Jianhua Chen, Liling Dong, Haijun Ge, Shiqi Fan, Lei Shi, Bin Peng, Xue Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
primary familial brain calcification
PFBC
SLC20A2
PDGFB
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.643452/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.643452/full

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