Clonal Growth of Epiphyseal Chondrocytes from Patients with Different Forms of Osteogenesis Imperfecta
Osteogenesis imperfecta (O.I.) is a disease of the connective tissue characterized by bone fragility, osteopenia, progressing skeletal deformities and often significant short stature. The Sillence classification  identifies four major subgroups of patients. Type I and type IV patients show an autosomal dominant mode of inheritance and a mild or moderate form of the disease, Type II is the lethal form. Type III shows a severe clinical course complicated by a high fracture rate, progressive skeletal deformities and dwarfism. Both forms (II and III) are genetically heterogeneous , O.I. most likely results from a variety of deletions, insertions and point mutations of the genes coding for collagen type I .
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