{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T02:54:30Z","timestamp":1777776870861,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:00Z","timestamp":1620691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013117","name":"International Fibrodysplasia Ossificans Progressiva Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013117","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30\u2010AR069619"],"award-info":[{"award-number":["P30\u2010AR069619"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Little is known about FOP in Africa and few cases of nonclassic fibrodysplasia ossificans progressiva (FOP) have been reported on the continent. Here we report a three\u2010year\u2010old girl from Angola with a nonclassic FOP clinical presentation that is characterized by complex malformations of the toes and fingers, reduction defects of the digits, absence of nails, progressive heterotopic ossification, and a confirmed heterozygous <jats:italic>ACVR1<\/jats:italic> variant at c.983G\u2009&gt;\u2009A. Emerging knowledge of FOP can serve as a catalyst for increasing awareness of FOP in under\u2010represented medical communities by achieving a correct FOP diagnosis, improving access of individuals with FOP to clinical trial recruitment, and enhancing the ability of affected individuals to be part of and interact with the international FOP community.<\/jats:p>","DOI":"10.1002\/ajmg.a.62253","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T14:12:10Z","timestamp":1620742330000},"page":"2572-2575","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp>Nonclassic<\/scp> fibrodysplasia ossificans progressiva: A child from Angola with an <scp>ACVR1<sup>G328E<\/sup><\/scp> variant"],"prefix":"10.1002","volume":"185","author":[{"given":"Diana","family":"Mart\u00edn\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Faculty of Medicine Katyavala Bwila University  Benguela Angola"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-3943","authenticated-orcid":false,"given":"O. Will","family":"Towler","sequence":"additional","affiliation":[{"name":"Departments of Orthopaedic Surgery The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"The Center for Research in FOP &amp; Related Disorders The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiqi","family":"Xu","sequence":"additional","affiliation":[{"name":"Departments of Orthopaedic Surgery The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"The Center for Research in FOP &amp; Related Disorders The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osmany","family":"Alfonso\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Katyavala Bwila University  Benguela Angola"},{"name":"Division of Orthopedics Benguela's General Hospital  Benguela Angola"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula R.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Katyavala Bwila University  Benguela Angola"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marleny","family":"Alonso\u2010Clavo","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Katyavala Bwila University  Benguela Angola"},{"name":"Division of Pediatrics Benguela's General Hospital  Benguela Angola"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eileen M.","family":"Shore","sequence":"additional","affiliation":[{"name":"Departments of Orthopaedic Surgery The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"The Center for Research in FOP &amp; Related Disorders The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Departments of Genetics The Perelman School of Medicine at the University of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick S.","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Departments of Orthopaedic Surgery The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"The Center for Research in FOP &amp; Related Disorders The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Departments of Medicine The Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000365770"},{"key":"e_1_2_7_3_1","first-page":"1","article-title":"The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations","volume":"1","author":"Kaplan F. S.","year":"2019","journal-title":"The International Clinical Council on FOP"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678707.2017.1304211"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20868"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1783"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2020.11.004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62253","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62253","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62253","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:39:56Z","timestamp":1693211996000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62253"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,11]]},"references-count":6,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62253"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62253","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,11]]},"assertion":[{"value":"2021-01-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}