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Results 1 - 4 of 4 for Osteogenesis "imperfecta," type 18
  1. Osteogenesis imperfecta 
    ... with normal sclerae, dominant form Genetic Testing Registry: Osteogenesis imperfecta, type 18 Genetic Testing Registry: Osteogenesis imperfecta, type 19 Dentinogenesis ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  2. 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
  3. COL1A2 gene 
    ... cause. Mutations in the COL1A2 gene occasionally cause osteogenesis imperfecta type I, the mildest form of this disorder.Some ... Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  4. Patient support and advocacy groups 
    ... Syndrome Association (UK) Nystagmus Network Organic Acidemia Association Osteogenesis Imperfecta Foundation Ovarian Cancer Research Alliance Pachyonychia Congenita Project ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -