SLC20A2 and bilateral striopallidodentate calcinosis: According to the filtering process (Supplementary Table 2), we identified three novel mutations in genes known to be responsible for PFBC: two of them were detected in SLC20A2. A G-to-A transition at the +1 splice donor position in intron 4 of SLC20A2 (c.516+1G > A) was revealed in the proband of Family 1 in a heterozygous state (Fig. 2a).