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Results 1 - 3 of 3 for Osteogenesis imperfecta type 17
  1. ... Registry: Osteogenesis imperfecta type 16 Genetic Testing Registry: Osteogenesis imperfecta type 17 Genetic Testing Registry: Osteogenesis imperfecta type 6 Genetic ...
  2. ... 1. This condition has features similar to both osteogenesis imperfecta type XI and Kuskokwim syndrome (described above): affected individuals ... hydroxylation, it is nearly absent in people with osteogenesis imperfecta type XI and Bruck syndrome 1. As a result, ...
  3. ... Most of the mutations that are responsible for osteogenesis imperfecta type I, the mildest form of this disorder, reduce ... the bone fragility and other characteristic features of osteogenesis imperfecta type I.Several kinds of mutations in the COL1A1 ...