Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t
Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
โ Scribed by D. Pallos; P.S. Hart; J.R. Cortelli; S. Vian; J.T. Wright; J. Korkko; D. Brunoni; T.C. Hart
- Book ID
- 113988182
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 394 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0003-9969
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## Abstract Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple ve
Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin