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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Detalles Bibliográficos
Autores principales: Shen, Yuqi, Shu, Shi, Ren, Yaqiong, Xia, Weibo, Chen, Jianhua, Dong, Liling, Ge, Haijun, Fan, Shiqi, Shi, Lei, Peng, Bin, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138311/
https://www.ncbi.nlm.nih.gov/pubmed/34025715
http://dx.doi.org/10.3389/fgene.2021.643452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138311/
https://www.ncbi.nlm.nih.gov/pubmed/34025715
http://dx.doi.org/10.3389/fgene.2021.643452

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