In addition, 20 patients were diagnosed with Osteogenesis Imperfecta (OI) (OMIM: #166210, #259420, #166220), with ten patients showing variants in the COL1A2 gene (OMIM: *120160) and eight patients with variants in the COL1A1 gene (OMIM: *120150). Here, COL1A1 is linked to osteogenesis imperfecta.