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9. Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R. Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet. 2009 Mar; 17(3): 311-18. doi:10.1038/ejhg.2008.178

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11. Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, et al. ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. Eur J Hum Genet. 2011; 19(4): 389-93. doi:10.1038/ejhg.2010.224

12. Whyte MP, Wenkert D, Demertzis JL, DiCarlo EF, Westenberg E, Mumm S. Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1. J Bone Miner Res. 2012 Mar; 27(3): 729-37. doi:10.1002/jbmr.1473

13. Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, et al. Dominant-negative ALK2 allele associates with congenital heart defects. Circulation. 2009 Jun; 119(24): 3062-69. doi:10.1161/CIRCULATIONAHA.108.843714

14. Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N, et al. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A. 2008 Feb; 146A(4): 459-63. doi:10.1002/ajmg.a.32151

15. Pacifici M, Shore EM. Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders. Cytokine Growth Factor Rev. 2016 Feb; 27: 93-104. doi:10.1016/j.cytogfr.2015.12.007

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19. Schaffer AA, Kaplan FS, Tracy MR, O'Brien ML, Dormans JP, Shore EM, et al. Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. Spine (Phila Pa 1976). 2005 Jun; 30(12): 1379-85.

20. Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, et al. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008 May; 121(5): e1295-300. doi:10.1542/peds.2007-1980