Osteogenesis imperfecta, or 'brittle bone disease', is a clinically heterogeneous heritable connective tissue disorder, the causative defects of which are directly related to type I collagen. Human cases and murine models of osteogenesis imperfecta are providing insight into common pathways in dominant and recessive osteogenesis imperfecta, leading to the re-evaluation of its definition, classification and therapeutic approaches.
- Antonella Forlino
- Wayne A. Cabral
- Joan C. Marini