Aiming to identify novel pathogenic variants underlying PFBC, we first screened a cohort at UCL, comprising 78 cases from 53 families with PFBC who were negative for pathogenic variants in genes already linked to PFBC (SLC20A2, PDGFB, PDGFRβ, XPR1, MYORG, JAM2). This evidence concerns the gene PDGFB and bilateral striopallidodentate calcinosis.