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. 2020 Apr 9;267(8):2221–2227. doi: 10.1007/s00415-020-09821-4

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© The Author(s) 2020

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Fig. 1 — a pedigree of the family; filled symbols indicate subjects with symptoms; ± indicates screened individuals with heterozygous SLC20A2 mutation; b CT scans of the proband showing calcification of the basal ganglia and caudate nuclei. Further diffuse calcification is noted within the region of the centrum semi-ovale on the right; c electropherogram from the proband (lower box) and her mother (upper box)