Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
por: Keogh, Michael J., et al.
Publicado: (2015) -
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant
por: Shen, Jack, et al.
Publicado: (2022) -
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification
por: Vanlandewijck, Michael, et al.
Publicado: (2015) -
White matter involvement in a family with a novel PDGFB mutation
por: Biancheri, Roberta, et al.
Publicado: (2016) -
Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
por: Paucar, Martin, et al.
Publicado: (2016)