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Osteogenesis Imperfecta (OI): For Researchers and Health Care Providers

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  • Osteogenesis Imperfecta Foundation External Web Site Policy
    The foundation offers materials for medical providers, including general information and fact sheets.
  • National Institute of Musculoskeletal and Skin Diseases (NIAMS)
    NIAMS maintains the NIH Osteoporosis and Related Bone Diseases National Resource Center, which provides information about osteogenesis imperfecta for health care practitioners. Information is available specifically for OI.
  • International Skeletal Dysplasia Registry External Web Site Policy
    Established in 1970, the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center (Los Angeles) is a referral center for diagnostic opinions. The Registry also collects information for research into the diagnosis, management, and etiology of the skeletal dysplasias. Partially supported by a grant from the NIH, it is the largest such registry in the world.
  • Osteogenesis Imperfecta Mutation Consortium
    NICHD's Bone and Extracellular Matrix Branch leads an international consortium of connective tissue laboratories that compile and analyze information on mutations in type I collagen. The first analysis of the consortium's database, published in 2007, listed more than 830 mutations. The database now contains more than 1,570 mutations from nine international laboratories.1 Read a published abstract of research conducted by the consortium.

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.


  1. NICHD. (2011). 2011 Annual report of the Division of Intramural Research. Retrieved May 7, 2012, from http://2011annualreport.nichd.nih.gov/bemb.html [top]

Last Updated Date: 03/06/2014
Last Reviewed Date: 12/16/2013
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