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特許 係属中 Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome,[1] is a congenital bone disorder characterized by brittle bones that are prone to fracture. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen.[2] Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes.
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