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Osteogenesis imperfecta
- Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People ...
- ... be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. ... considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without ...
- ... carriers may have decreased bone mineral density. OPPG Osteogenesis imperfecta, ocular form Genetic Testing Registry: Osteoporosis with pseudoglioma ...
- ... Ehlers-Danlos syndrome. More About This Health Condition Osteogenesis imperfecta is the most common disorder caused by mutations ... imperfecta. Hundreds of COL1A1 gene mutations that cause osteogenesis imperfecta have been identified. Most of the mutations that ...
- ... Most COL1A2 gene mutations cause severe forms of osteogenesis imperfecta, including types II, III, and IV. People with ... cause. Mutations in the COL1A2 gene occasionally cause osteogenesis imperfecta type I, the mildest form of this disorder. ...
- ... This Health Condition MedlinePlus Genetics provides information about Osteogenesis imperfecta More About This Health Condition Mutations in the ... 1. This condition has features similar to both osteogenesis imperfecta type XI and Kuskokwim syndrome (described above): affected ...
- ... abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle ... Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of ...
- ... result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone ...
