Associated Papers
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.
Emmi A et al.
Annals of Clinical and Translational Neurology, 2025
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
Sun H et al.
Neuroscience Bulletin, 2023
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Giorgio E et al.
Journal of Human Genetics, 2019
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification.
Rubino E et al.
Journal of the Neurological Sciences, 2017
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