Article
Genetic disorders of connective tissues.
Current opinion in rheumatology - 1 Oct 1991
Mundlos S, Spranger J
Abstract excerpt
Due to the growing knowledge of structure and function of extracellular matrix proteins, congenital abnormalities of connective tissues are identified or suspected in an increasing number of clinical disorders. In osteogenesis imperfecta and two subtypes of Ehlers-Danlos syndrome, the affected matrix proteins were identified and mutations in the corresponding genes (procollagen type I and type III, respectively)...
Topics
- Collagen
- Connective Tissue Diseases
- Humans
- Mutation
- Osteogenesis Imperfecta
- Phenotype