MBTPS2 and osteogenesis imperfecta: EBP (Emopamil-binding protein, also known as EBP cholestenol delta-isomerase) is significantly downregulated in MBTPS2-OI patient fibroblasts (Figure 9B and Supplementary Table 3) and displays a trend towards downregulation in MBTPS2-IFAP/KFSD patient fibroblasts (p = 0.0660, Figure 9B).