Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.
BACKGROUND Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal dysplasia characterized by systemic bone fragility. Beyond skeletal manifestations, OI is a multisystem condition involving dentinogenesis imperfecta, hearing loss, joint hyperlaxity, and cardiopulmonary complications. The di...