Associated Papers
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
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Balck A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.
Sun H et al.
Molecular Genetics & Genomic Medicine, 2021
Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.
Chen S et al.
Parkinsonism & Related Disorders, 2019
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