Abstract:Osteogenesis imperfecta (OI) is a very common, inherited autosomal dominant disease. It is characterized by deformity and fragility in bone structure, blue sclera, hearing loss, scoliosis, and dentinogenesis imperfecta. Molecular studies have shown that the cause of OI is a mutation of genes named COLIA1 and COLIA2 in both chains of collagen. Biochemical tests that examine the collagen structure or molecular tests that examine the DNA structure are used for making a definite diagnosis of the disease. It is rep… Show more
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