Recently discovered variants of the KDELR2 (KDEL Endoplasmic Reticulum Protein Retention Receptor 2) gene have been associated with multiple fractures beginning in childhood, long bone bowing, chest deformity, and short stature, leading to a diagnosis of progressive deforming osteogenesis imperfecta [71]. Here, KDELR2 is linked to osteogenesis imperfecta.