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- Title
Relationship Between Genotype and Skeletal Phenotype in Children and Adolescents with Osteogenesis Imperfecta.
- Authors
Rauch, Frank; Lalic, Liljana; Roughley, Peter; Glorieux, Francis H.
- Abstract
The article presents a study that examined the relationship collagen type I mutations and findings of bone densitometry and histomorphometry in children with osteogenesis imperfecta (OI) without biphosphonate treatment. The results of the study showed that the haploinsufficiency group exhibited lower parameters of bone turnover compared with the patients who had helical mutations. It was concluded that patients who have haploinsufficiency mutations had a milder skeletal phenotype compared with patients with glycine residue mutations.
- Subjects
COLLAGEN; GENETIC mutation; BONE densitometry; OSTEOGENESIS imperfecta; DIPHOSPHONATES
- Publication
Journal of Bone & Mineral Research, 2010, Vol 25, Issue 6, p1367
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1359/jbmr.091109