Article
Osteogenesis imperfecta.
Annual review of medicine - 1 Jan 1992
Byers P H, Steiner R D
Abstract excerpt
Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads into molecular diagnosis and prognostic counseling....
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Collagen
- Combined Modality Therapy
- Genes, Dominant
- Genes, Recessive
- Humans
- Mutation
- Osteogenesis Imperfecta
- Phenotype