Human pathology

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OI type 1

osteogenesis imperfecta 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

Keywords