Article
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
Journal of medical genetics - 1 Nov 1996
Cole W G, Chan D, Chow C W, Rogers J G, Bateman J F
Abstract excerpt
The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structura...
Topics
- Adolescent
- Adult
- Arm
- Bone and Bones
- Child, Preschool
- Collagen
- Female
- Glycine
- Growth Plate
- Humans
- Infant, Newborn
- Male
- Mutation
- Osteogenesis Imperfecta
- Pregnancy
- Radiography
- Thorax
- Valine