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Xu, R. Osteogenesis Imperfecta. Encyclopedia. Available online: https://encyclopedia.pub/entry/4826 (accessed on 23 September 2026).
Xu R. Osteogenesis Imperfecta. Encyclopedia. Available at: https://encyclopedia.pub/entry/4826. Accessed September 23, 2026.
Xu, Rita. "Osteogenesis Imperfecta" Encyclopedia, https://encyclopedia.pub/entry/4826 (accessed September 23, 2026).
Xu, R. (2020, December 24). Osteogenesis Imperfecta. In Encyclopedia. https://encyclopedia.pub/entry/4826
Xu, Rita. "Osteogenesis Imperfecta." Encyclopedia. Web. 24 December, 2020.
Osteogenesis Imperfecta
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

genetic conditions

References

  1. Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta.Annu Rev Genet. 2012;46:475-97. doi: 10.1146/annurev-genet-110711-155608. Review.
  2. Kang H, Aryal A C S, Marini JC. Osteogenesis imperfecta: new genes revealnovel mechanisms in bone dysplasia. Transl Res. 2017 Mar;181:27-48. doi:10.1016/j.trsl.2016.11.005.
  3. Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms ofOsteogenesis Imperfecta. Bone. 2017 Sep;102:40-49. doi:10.1016/j.bone.2017.02.004.
  4. Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F,Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesisimperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Review.
  5. Steiner RD, Basel D. COL1A1/2 Osteogenesis Imperfecta. 2005 Jan 28 [updated2019 Dec 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1295/
  6. Tournis S, Dede AD. Osteogenesis imperfecta - A clinical update. Metabolism.2018 Mar;80:27-37. doi: 10.1016/j.metabol.2017.06.001.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 1.1K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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