Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue.
genetic conditions
References
Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi:10.1002/ajmg.a.32346.
Aynaci O, Müjgan Aynaci F, Cobanoğlu U, Alpay K. Progressive osseousheteroplasia. A case report and review of the literature. J Pediatr Orthop B.2002 Oct;11(4):339-42. Review.
Chan I, Hamada T, Hardman C, McGrath JA, Child FJ. Progressive osseousheteroplasia resulting from a new mutation in the GNAS1 gene. Clin Exp Dermatol. 2004 Jan;29(1):77-80.
Plagge A, Kelsey G, Germain-Lee EL. Physiological functions of the imprintedGnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol. 2008 Feb;196(2):193-214. doi: 10.1677/JOE-07-0544. Review.
Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS. Paternally inherited inactivating mutations of the GNAS1gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan10;346(2):99-106. Erratum in: N Engl J Med 2002 May 23;346(21):1678.
Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation.Nat Rev Rheumatol. 2010 Sep;6(9):518-27. doi: 10.1038/nrrheum.2010.122.
Weinstein LS, Chen M, Liu J. Gs(alpha) mutations and imprinting defects inhuman disease. Ann N Y Acad Sci. 2002 Jun;968:173-97. Review.
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