Article
[Osteogenesis imperfecta. New viewpoints on principles, clinical aspects and therapy].
Klinische Padiatrie - 1 Jan 2000
Vetter U, Brenner R, Teller W M, Wörsdorfer O
Abstract excerpt
Recently osteogenesis imperfecta has attracted much interest both of scientists and clinicians. Modern protein biochemistry and molecular biology have provided evidence that disturbed type I collagen synthesis is involved in the pathogenesis of the disease. Structural defects in the corresponding collagen genes have been identified in some cases, whereas others possibly are due to developmental defects leading to...
Topics
- Collagen
- Humans
- Infant
- Infant, Newborn
- Mutation
- Osteogenesis Imperfecta