{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:42:45Z","timestamp":1790214165698,"version":"4.1.0"},"reference-count":34,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2014]]},"abstract":"Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Mutations in the <i>ACVR1<\/i> gene (MIM 102576) were identified as a genetic cause of FOP [Shore et al., 2006]. Most patients with FOP have the same recurrent single nucleotide change c.617G>A, p.R206H in the <i>ACVR1<\/i> gene. Furthermore, 11 other mutations in the <i>ACVR1<\/i> gene have been described as a cause of FOP. Here, we review phenotypic and molecular findings of 130 cases of FOP reported in the literature from 1982 to April 2014 and discuss possible genotype-phenotype correlations in FOP patients.<\/jats:p>","DOI":"10.1159\/000365770","type":"journal-article","created":{"date-parts":[[2014,8,25]],"date-time":"2014-08-25T07:17:25Z","timestamp":1408951045000},"page":"201-211","source":"Crossref","is-referenced-by-count":88,"title":["Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation"],"prefix":"10.1159","volume":"5","author":[{"given":"Irina","family":"H\u00fcning","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2014,8,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/834605"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.178"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01256.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1080\/08977190412331279890"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.G.00774"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32151"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-006-9000-6"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2010.10.164"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35346"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1385\/BMM:3:3-4:213"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1385\/BMM:3:3-4:189"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1402.039"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20868"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1044\/1059-0889(1999\/011)"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1350705"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(56)90149-7"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2012.07.002"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36219"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0128-3"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005005"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1385\/BMM:3:3-4:195"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-80"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-009-1283-z"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000166619.22832.2c"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1172\/JCI37412"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00432-X"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1385\/BMM:3:3-4:201"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1038\/ng1783"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1007\/s11825-012-0315-2"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1126\/science.150.3698.893"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1007\/s002239900693"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2007.05839.x"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201241"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2013.09.002"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/365770","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/365770","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:01:51Z","timestamp":1745431311000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000365770"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":34,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,8,1]]},"published-print":{"date-parts":[[2014,8,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000365770","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}