COL1A1 and osteogenesis imperfecta: This is in agreement with other studies that have also found that complete COL1A1 deletion results in a clinical phenotype of mild osteogenesis imperfecta with increased susceptibility to fractures, variable short stature, blue sclerae, and minor, if any, skeletal deformities (Jewell et al., 2017; van Dijk et al., 2010).