Article
Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.
Clinical science (London, England : 1979) - 18 Dec 2025
Cotti Silvia, Pérez Franco Wendy, Forlino Antonella
Abstract excerpt
The clinical hallmarks of osteogenesis imperfecta (OI), often referred to as 'brittle-bone disease', are bone fragility and skeletal deformities that are usually accompanied by extra skeletal manifestations. OI is a family of collagen I-related disorders, currently classified into 23 distinct types and 5 OI-like forms, with variable phenotypic severity ranging from mild to lethal. At the molecular level, the...
Topics
- Humans
- Osteogenesis Imperfecta
- Mutation
- Collagen Type I
- Animals
- Extracellular Matrix
- Phenotype
- Collagen
