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Whole exome sequencing identified an activating mutation of <jats:italic>ACVR1<\/jats:italic> (c.983G\u2009&gt;\u2009A; p.Gly328Glu) which confirmed a suspected FOP variant. The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification.<\/jats:p>","DOI":"10.1002\/ajmg.a.61153","type":"journal-article","created":{"date-parts":[[2019,4,23]],"date-time":"2019-04-23T04:50:17Z","timestamp":1555995017000},"page":"1310-1314","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6491-9647","authenticated-orcid":false,"given":"Zoran","family":"Gucev","sequence":"first","affiliation":[{"name":"Medical Faculty \u2013 Skopje University Ss Cyril and Methodius of Skopje  Skopje Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[{"name":"Medical Faculty \u2013 Skopje University Ss Cyril and Methodius of Skopje  Skopje Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dijana","family":"Plaseska\u2010Karanfilska","sequence":"additional","affiliation":[{"name":"Research Centre for Genetic Engineering and Biotechnology \u201cGeorgi D. Efremov\u201d, Macedonian Academy of Sciences and Arts  Skopje Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Dimishkovska","sequence":"additional","affiliation":[{"name":"Research Centre for Genetic Engineering and Biotechnology \u201cGeorgi D. 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Will","family":"Towler","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Center for Research in FOP &amp; Related Disorders Perelman School of Medicine, The University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eileen M.","family":"Shore","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Center for Research in FOP &amp; Related Disorders Perelman School of Medicine, The University of Pennsylvania  Philadelphia Pennsylvania"},{"name":"Department of Genetics, Perelman School of Medicine The University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick S.","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Center for Research in FOP &amp; Related Disorders Perelman School of Medicine, The University of Pennsylvania  Philadelphia Pennsylvania"},{"name":"Department of Medicine Perelman School of Medicine, The University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,4,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01256.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/08977190412331279890"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-199302000-00008"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-804182-6.00030-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000365770"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.04.015"},{"key":"e_1_2_7_8_1","first-page":"1","article-title":"The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations","volume":"1","author":"Kaplan F. 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