P3H1 and Bruck syndrome: It also has uses in studying the effects on collagen-I synthesis of mutations in genes associated with collagen synthesis, such as FKBP10 and PLOD2 (Bruck syndrome), and BMP1, CREB3L1, CRTAP, P3H1, PPIB, Serpinh1, and TMEM38B (osteogenesis imperfecta).