OI type 1
Osteogenesis imperfecta type 1 is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.
Etiology
mutation in COL1A1 gene (MIM.120150)
mutation in COL1A2 gene (MIM.120160)
possibly in other genes
See also
osteogenesis imperfecta
- OI type 1
- OI type 2