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].
vol.102, n.7, pp. 631-633.
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 ]