Osteogenesis imperfecta overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein (collagen), or the ability to make it, usually because of a deficiency of Type-I collagen.[1] People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones.[2]

References

  1. Rauch F, Glorieux FH (2004). "Osteogenesis imperfecta". Lancet. 363 (9418): 1377–85. PMID 15110498.
  2. "Osteogenesis Imperfecta Foundation: Fast Facts". Retrieved 2007-07-05.


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