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Results 1 - 5 of 5 for Osteogenesis imperfecta type 17
  1. Osteogenesis imperfecta 
    ... Registry: Osteogenesis imperfecta type 16 Genetic Testing Registry: Osteogenesis imperfecta type 17 Genetic Testing Registry: Osteogenesis imperfecta type 6 Genetic ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - 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
  4. Connective Tissue Disorders: Recognizing and Treating Structural Defects From the National Institutes of Health (National Institutes of Health)  
    Your body’s connective tissues, like tendons and ligaments, help your joints move. They also give structure and flexibility to skin, blood vessels, and ...
    https://newsinhealth.nih.gov/2024/09/connective-tissue-disorders - External Health Links
  5. Videos from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Video From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    ... NICHD Research Information Find a Study More Information Osteogenesis Imperfecta (OI) Osteogenesis Imperfecta (OI) About NICHD Research Information Find a Study ...
    https://www.nichd.nih.gov/newsroom/digital-media/videos - Videos