[Osteoporosis in congenital disorders].

Abstract excerpt

Osteogenesis imperfecta (OI) is the most prevalent osteoporosis syndrome in childhood and is characterized by fractures and skeletal deformities. In almost all individuals, OI results from mutations in one of the two genes (COL1A1 and COL1A2) that encode the chains of type I collagen. OI can be divided into four major groups, type I, II, III, and IV, that differ in clinical presentation, mode of inheritance,...

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