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Results 1 - 7 of 7 for Osteogenesis imperfecta type 5
  1. Osteogenesis imperfecta 
    ... Registry: Osteogenesis imperfecta type 12 Genetic Testing Registry: Osteogenesis imperfecta type 5 Genetic Testing Registry: Osteogenesis imperfecta type 7 Genetic ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  2. 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
  3. 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
  4. Gnathodiaphyseal dysplasia 
    ... syndrome 2 Osteogenesis imperfecta with unusual skeletal lesions Osteogenesis imperfecta, Levin type Genetic Testing Registry: Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia National ...
    https://medlineplus.gov/.../condition/gnathodiaphyseal-dysplasia - Genetics
  5. 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
  6. Dentinogenesis imperfecta 
    ... genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet. 2004 Apr;114(5):491-8. doi: 10.1007/s00439-004-1084-z. Epub 2004 Feb 3. Citation on PubMed McKnight DA, Simmer JP, ... dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008 Dec;87(12):1108- ...
    https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta - Genetics
  7. Osteoporosis-pseudoglioma syndrome 
    ... carriers may have decreased bone mineral density. OPPG Osteogenesis imperfecta, ... Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet. 2005 Nov;77(5):741-53. doi: 10.1086/497706. Epub 2005 ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics