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Results 1 - 3 of 3 for Osteogenesis imperfecta type 5
  1. COL1A2 gene 
    ... B. Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. Hum Genet. 2008 Jun;123(5):540. No abstract available. Citation on PubMed Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone. 2017 Sep;102:40-49. doi: 10. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  2. FKBP10 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  3. COL1A1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics