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. 2021 Jul 15;29(10):1520–1526. doi: 10.1038/s41431-021-00919-5

Fig. 3. Family 3: SLC20A2 gene.

Fig. 3

A Family 3 pedigree and genotypes; wild type (wt); mutant allele (mt). B Schematic representation of the SLC20A2 protein (adapted from Hsu SC et al. 2013 [42]). Blue bars illustrate the N-and C-terminal ProDom domain (N-PD001131 and C-PD001131 respectively) of the protein. The red star indicates the position of the variant p.(Arg71Cys) in the SLC20A2 gene detected in our family. C Cranial computed tomography (CT) scan of the homozygous patient showing extensive areas of calcification in the frontal white matter and basal ganglia. D Normal cranial CT scan of her asymptomatic heterozygous sister (II:6).