To test this in additional SIOD patients, we used indirect immunofluorescence to profile the expression of unphosphorylated β-catenin and the nuclear localization of the Notch1 intracellular domain (NICD), which are respectively markers of canonical Wnt and Notch pathway activation [28, 29] (Additional file 1: Figure S2 and Fig. 3a). This evidence concerns the gene NOTCH1 and Schimke immuno-osseous dysplasia.