Associated Papers
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Lenglez S et al.
Human Molecular Genetics, 2022
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW et al.
Bmc Neurology, 2019
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX et al.
Human Mutation, 2019
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.
Wang C et al.
Journal of Human Genetics, 2017
The genetics of primary familial brain calcifications.
Westenberger A et al.
Current Neurology and Neuroscience Reports, 2014
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