SciELO - Scientific Electronic Library Online

SciELO - Scientific Electronic Library Online

Article References

DANDARA, Collet et al. Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. SAMJ, S. Afr. med. j. [online]. 2012, vol.102, n.7, pp. 631-633. ISSN 0256-9574.

    1. Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics 2006;38:525-527. [ Links ]

    2. Kaplan FS, Xu M, Seemann P, et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 2009a;30:379-390. [ Links ]

    3. Kaplan FS, Pignolo RJ, Shore EM. The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signalling. Cytokine & Growth Factor Reviews 2009b;20:399-407. [ Links ]

    4. Scott C, Urban M, Arendse R, Dandara C, Beighton P. Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country. J Clin Rheumatol 2011;17:38-41. [ Links ]

    5. Roberts T, Stephen LXG, Scott C, Urban M, Sudi S, Beighton P. Fibrodysplasia ossificans progressive (FOP) in South Africa: dental implications in 5 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011;112:11-18. [ Links ]

    6. Connor JM, Beighton P. Fibrodysplasia ossificans progressiva in South Africa: case reports. S Afr Med J 1982;61:404-406. [ Links ]

    7. Gregson CL, Hollingworth P, Williams M, et al. A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date. Bone 2011;48:654-658. [ Links ]

    8. Yu PB, Deng DY, Lai CS, et al. BMP type I receptor inhibition reduces heterotopic ossification. Nature Medicine 2008;14:1363-1369. [ Links ]