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References

These sources were used to develop the Genetics Home Reference condition summary on osteogenesis imperfecta.

Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Curr Opin Pediatr. 2000 Dec;12(6):603-9. Review. PubMed citation
Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007 Mar;39(3):359-65. Epub 2007 Feb 4. PubMed citation
Cole WG. Advances in osteogenesis imperfecta. Clin Orthop. 2002 Aug;(401):6-16. Review. PubMed citation
Gene Review: COL1A1/2-Related Osteogenesis Imperfecta
Gene Tests: COL1A1/2-Related Osteogenesis Imperfecta
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304. PubMed citation
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004 Apr 24;363(9418):1377-85. Review. PubMed citation
Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta--clinical and molecular diversity. Eur Cell Mater. 2003 Jun 30;5:41-7; discussion 47. Review. PubMed citation
Venturi G, Tedeschi E, Mottes M, Valli M, Camilot M, Viglio S, Antoniazzi F, Tato L. Osteogenesis imperfecta: clinical, biochemical and molecular findings. Clin Genet. 2006 Aug;70(2):131-9. Erratum in: Clin Genet. 2006 Nov;70(5):455. PubMed citation


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