Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
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
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
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