Article
The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.
Journal of medical genetics - 1 Apr 1990
Cole W G, Chow C W, Rogers J G, Bateman J F
Abstract excerpt
The features of three babies with lethal perinatal osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen were studied. The babies were heterozygous for this substitution at residue 391 in case 1 (0I24), 667 in case 2 (0I51...
Topics
- Female
- Humans
- Infant, Newborn
- Male
- Mutation
- Osteogenesis Imperfecta
- Pelvis
- Procollagen
- Radiography
- Ribs
- Skull