{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:34:10Z","timestamp":1791995650810,"version":"4.4.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bone"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1016\/j.bone.2012.07.002","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T11:59:55Z","timestamp":1342180795000},"page":"748-755","source":"Crossref","is-referenced-by-count":50,"title":["Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects"],"prefix":"10.1016","volume":"51","author":[{"given":"A.","family":"Morales-Piga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bachiller-Corral","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Trujillo-Tiebas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Villaverde-Hueso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Gamir-Gamir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Alonso-Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"V\u00e1zquez-D\u00edaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Posada de la Paz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Ayuso-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2012.07.002_bb0005","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1136\/jmg.19.1.35","article-title":"Genetic aspects of fibrodysplasia ossificans progressive","volume":"19","author":"Connor","year":"1982","journal-title":"J Med Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0010","first-page":"1","article-title":"The medical management of fibrodysplasia ossificans progressiva: current treatment considerations","volume":"4","author":"FOP Rx Guidelines: The International Clinical Consortium on FOP","year":"2011","journal-title":"Clin Proc Int Clin Consort FOP"},{"key":"10.1016\/j.bone.2012.07.002_bb0015","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.berh.2007.11.007","article-title":"Fibrodysplasia ossificans progressiva","volume":"22","author":"Kaplan","year":"2008","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.bone.2012.07.002_bb0020","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1385\/BMM:3:3-4:201","article-title":"The genetics of fibrodysplasia ossificans progressiva","volume":"3","author":"Shore","year":"2005","journal-title":"Clin Rev Bone Miner Metab"},{"key":"10.1016\/j.bone.2012.07.002_bb0025","series-title":"Connective tissue and its heritable disorders: molecular, genetic, and medical aspects","first-page":"827","article-title":"Fibrodysplasia ossificans progressiva (FOP)","author":"Kaplan","year":"2002"},{"key":"10.1016\/j.bone.2012.07.002_bb0030","series-title":"Primer on the metabolic bone diseases and disorders of mineral metabolism","first-page":"450","article-title":"Fibrodysplasia (myositis) ossificans progressiva","author":"Kaplan","year":"2006"},{"key":"10.1016\/j.bone.2012.07.002_bb0035","doi-asserted-by":"crossref","first-page":"e654","DOI":"10.1542\/peds.2005-0469","article-title":"Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva","volume":"116","author":"Kitterman","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2012.07.002_bb0040","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng1783","article-title":"A recurrent mutation in the BMP type 1 receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva","volume":"38","author":"Shore","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0045","first-page":"527","article-title":"Fibrodisplasia osificante progresiva. Enfermedad de Muchmeyer","volume":"31","author":"Bayes","year":"1980","journal-title":"Arch Pediatr"},{"key":"10.1016\/j.bone.2012.07.002_bb0050","first-page":"336","article-title":"Fibrodisplasia osificante progresiva","volume":"83","author":"Olmedo","year":"1984","journal-title":"Med Clin (Barc)"},{"key":"10.1016\/j.bone.2012.07.002_bb0055","first-page":"117","article-title":"Fibrodisplasia osificante progresiva: aportaci\u00f3n de un caso y resultado del tratamiento con difosfonatos","volume":"22","author":"Del Pino Ortiz","year":"1987","journal-title":"Rev Esp Cir Osteoartic"},{"key":"10.1016\/j.bone.2012.07.002_bb0060","first-page":"485","article-title":"Miositis o fibrodisplasia osificante progresiva idiop\u00e1tica (Enfermedad de Munchmeyer)","volume":"52","author":"Fern\u00e1ndez Toral","year":"1994","journal-title":"Act Ped Esp"},{"key":"10.1016\/j.bone.2012.07.002_bb0065","first-page":"646","article-title":"Lesiones en cabeza y cuello por Fibrodisplasia osificante progresiva (Enfermedad de Munchmeyer)","volume":"51","author":"Garc\u00eda Callejo","year":"2000","journal-title":"Acta Otorrinolaringol Esp"},{"key":"10.1016\/j.bone.2012.07.002_bb0070","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1157\/13094262","article-title":"Bultoma c\u00e9rvico-escapular","volume":"6","author":"Dupl\u00e1 Arenaz","year":"2006","journal-title":"An Pediatr (Barc)"},{"key":"10.1016\/j.bone.2012.07.002_bb0075","first-page":"597","article-title":"Miositis osificante progresiva. Aportaci\u00f3n de un caso y resultados del tratamiento con etidronato dis\u00f3dico","volume":"21","author":"S\u00e1nchez","year":"1984","journal-title":"An Esp Pediatr"},{"key":"10.1016\/j.bone.2012.07.002_bb0080","first-page":"251","article-title":"Fibrodisplasia osificante progresiva generalizada. Presentaci\u00f3n de un caso y revisi\u00f3n de la literatura","volume":"30","author":"Vicens","year":"1987","journal-title":"Barc Quir"},{"key":"10.1016\/j.bone.2012.07.002_bb0085","first-page":"67","article-title":"Miositis osificante progresiva. Estudio evolutivo de un caso","volume":"11","author":"Mart\u00ednez Assucena","year":"1989","journal-title":"Med Rehabil"},{"key":"10.1016\/j.bone.2012.07.002_bb0090","first-page":"51","article-title":"Fibrodisplasia osificante progresiva","volume":"39","author":"S\u00e1nchez Castro","year":"1995","journal-title":"Rev Ortop Traumatol"},{"key":"10.1016\/j.bone.2012.07.002_bb0095","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1157\/13084189","article-title":"Fibrodisplasia osificante progresiva: aportaci\u00f3n de 2 casos","volume":"64","author":"P\u00e9rez-Seoane Cuenca","year":"2006","journal-title":"An Pediatr (Barc)"},{"key":"10.1016\/j.bone.2012.07.002_bb0100","first-page":"22","article-title":"Fibrodisplasia osificante progresiva. Descripci\u00f3n de un caso","volume":"3","author":"Salmoral Chamizo","year":"2010","journal-title":"Rev Osteoporos Metab Miner"},{"key":"10.1016\/j.bone.2012.07.002_bb0105","author":"INE"},{"key":"10.1016\/j.bone.2012.07.002_bb0110","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/humu.20868","article-title":"Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1","volume":"30","author":"Kaplan","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.bone.2012.07.002_bb0115","doi-asserted-by":"crossref","first-page":"909","DOI":"10.2106\/00004623-197961060-00019","article-title":"Fibrodysplasia ossificans progressiva. a survey of forty-two cases","volume":"61-A","author":"Rogers","year":"1979","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.bone.2012.07.002_bb0120","doi-asserted-by":"crossref","first-page":"215","DOI":"10.2106\/00004623-199302000-00008","article-title":"The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients","volume":"75","author":"Cohen","year":"1993","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.bone.2012.07.002_bb0125","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1385\/BMM:3:3-4:183","article-title":"The phenotype of fibrodysplasia ossificans progressiva","volume":"3","author":"Kaplan","year":"2005","journal-title":"Clin Rev Bone Miner Metab"},{"key":"10.1016\/j.bone.2012.07.002_bb0130","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1302\/0301-620X.64B1.7068725","article-title":"Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients","volume":"64","author":"Connor","year":"1982","journal-title":"J Bone Joint Surg Br"},{"key":"10.1016\/j.bone.2012.07.002_bb0135","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/ejhg.2008.178","article-title":"Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements","volume":"17","author":"Bocciardi","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0140","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1097\/RHU.0b013e3182051678","article-title":"Fibrodysplasia ossificans progressiva in South Africa. difficulties in management in a developing country","volume":"17","author":"Scott","year":"2011","journal-title":"J Clin Rheumatol"},{"key":"10.1016\/j.bone.2012.07.002_bb0145","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1093\/qjmed\/89.6.445","article-title":"Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history","volume":"89","author":"Smith","year":"1996","journal-title":"Q J Med"},{"key":"10.1016\/j.bone.2012.07.002_bb0150","first-page":"73","article-title":"The hand and foot malformations in fibrodysplasia ossificans progressiva","volume":"14","author":"Schroeder","year":"1980","journal-title":"Johns Hopkins Med J"},{"key":"10.1016\/j.bone.2012.07.002_bb0155","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF02555995","article-title":"Fibrodysplasia ossificans progressiva: a clue from the fly?","volume":"47","author":"Kaplan","year":"1990","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.bone.2012.07.002_bb0160","doi-asserted-by":"crossref","first-page":"366","DOI":"10.2106\/JBJS.G.00774","article-title":"Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva","volume":"90","author":"Deirmengian","year":"2008","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.bone.2012.07.002_bb0165","article-title":"Proximal tibial exostosis and fibrodysplasia ossificans progressiva","volume":"90","author":"Ehara","year":"2008","journal-title":"J Bone Joint Surg Am"},{"key":"10.1016\/j.bone.2012.07.002_bb0170","doi-asserted-by":"crossref","first-page":"e1295","DOI":"10.1542\/peds.2007-1980","article-title":"Early diagnosis of fibrodysplasia ossificans progressiva","volume":"121","author":"Kaplan","year":"2008","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2012.07.002_bb0175","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/1750-1172-6-80","article-title":"Fibrodysplasia ossificans progressiva: clinical and genetic aspects","volume":"6","author":"Pignolo","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.bone.2012.07.002_bb0180","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/s00223-009-9235-9","article-title":"A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients","volume":"84","author":"Sun","year":"2009","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.bone.2012.07.002_bb0185","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s10038-007-0128-3","article-title":"The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva","volume":"52","author":"Nakajima","year":"2007","journal-title":"J Hum Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0190","doi-asserted-by":"crossref","first-page":"433","DOI":"10.3346\/jkms.2009.24.3.433","article-title":"ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva","volume":"24","author":"Lee","year":"2009","journal-title":"J Korean Med Sci"},{"key":"10.1016\/j.bone.2012.07.002_bb0195","first-page":"389","article-title":"Congenital aniridia","volume":"12","author":"Shaw","year":"1960","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0200","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1469-1809.1958.tb01423.x","article-title":"Marfan's syndrome in Northern Ireland: an account of thirteen families","volume":"22","author":"Lynas","year":"1958","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0205","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1186\/1471-2105-12-268","article-title":"New words in human mutagenesis","volume":"12","author":"Panchin","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.bone.2012.07.002_bb0210","doi-asserted-by":"crossref","first-page":"e1002420","DOI":"10.1371\/journal.pgen.1002420","article-title":"Positive selection for New disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B","volume":"8","author":"Choi","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0215","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1126\/science.1085710","article-title":"Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line","volume":"301","author":"Goriely","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.bone.2012.07.002_bb0220","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/nrg2809-c1","article-title":"Missing heritability: paternal age effect mutations and selfish spermatogonia","volume":"11","author":"Goriely","year":"2010","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.bone.2012.07.002_bb0225","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10067-009-1283-z","article-title":"Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva","volume":"29","author":"Ratbi","year":"2010","journal-title":"Clin Rheumatol"},{"key":"10.1016\/j.bone.2012.07.002_bb0230","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/ajmg.a.32151","article-title":"A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)","volume":"146","author":"Furuya","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.bone.2012.07.002_bb0235","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.bone.2010.10.164","article-title":"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","volume":"48","author":"Gregson","year":"2011","journal-title":"Bone"},{"key":"10.1016\/j.bone.2012.07.002_bb0240","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1749-6632.2011.06195.x","article-title":"Fibrodysplasia ossificans progressiva: a blueprint for metamorphosis","volume":"1237","author":"Kaplan","year":"2011","journal-title":"Ann N Y Acad Sci"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328212009544?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328212009544?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,30]],"date-time":"2019-06-30T21:58:36Z","timestamp":1561931916000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328212009544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":48,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["S8756328212009544"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2012.07.002","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]}}}