Clinical Features of Primary Familial Brain Calcification in 17 Families
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference10 articles.
1. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis;Wang;Nat Genet,2012
2. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification;Nicolas;Neurology,2013
3. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology;Sanchez-Contreras;Hum Mutat,2014
4. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export;Legati;Nat Genet,2015
5. Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification;Yao;Neuron,2018
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis;Brain Pathology;2023-07-28
2. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family;Brain Research Bulletin;2019-08
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