Regenerative Medicine and Stem Cells

From Genetic Mutation to Skeletal Fragility: Multiscale Profiling of Human Osteogenesis Imperfecta Bone

Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder characterized by bone fragility, recurrent fractures, skeletal deformities, and substantial variability in clinical severity. Although OI is primarily associated with defects in type I collagen or proteins involved in its processing,...