What are the Clinical Implications of Type I Collagen Defects?
Defects in type I collagen can lead to various medical conditions. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder characterized by defective type I collagen, resulting in fragile bones. Another condition, Ehlers-Danlos syndrome, involves mutations affecting collagen synthesis, leading to hypermobility and skin elasticity.
