Mutations in genes involved in posttranslational modification of collagen (CRTAP, PPIB, LEPRE1/P3H1) [113–115], folding (SERPINH1, FKBP10) [13, 116], intracellular trafficking (SEC24D) [117], and extracellular processing (BMP1) [118, 119] have also been described to cause OI as a result of autosomal recessive inheritance. This evidence concerns the gene P3H1 and osteogenesis imperfecta.