{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T02:54:29Z","timestamp":1777776869910,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,8,4]],"date-time":"2015-08-04T00:00:00Z","timestamp":1438646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Fibrodyspasia ossificans progressiva is an autosomal dominant disease due to activating mutations in activin receptor type IA and characterized by progressive heterotopic ossification. Recently, the same non\u2010synonymous heterozygous somatic mutations of <jats:italic>ACVR1<\/jats:italic> have been identified in brain biopsies or autopsy of 24\u201327% of patients with a rare cerebral tumor, the diffuse intrinsic pontine glioma. We report the first case of a patient with FOP with incidental findings of an abnormal soft tissue mass surrounding the brainstem and causing obstructive hydrocephalus, associated with bilateral dentate lesions. Clinico\u2010radiological course during 10 years of follow\u2010up was consistent with a benign lesion, excluding an oncogenic role of <jats:italic>ACVR1<\/jats:italic> mutations. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37271","type":"journal-article","created":{"date-parts":[[2015,8,4]],"date-time":"2015-08-04T05:25:41Z","timestamp":1438665941000},"page":"2817-2821","source":"Crossref","is-referenced-by-count":14,"title":["New insights into central nervous system involvement in FOP: Case report and review of the literature"],"prefix":"10.1002","volume":"167","author":[{"given":"Marta","family":"Bertamino","sequence":"first","affiliation":[{"name":"Department of Medicine and Surgery University of Genoa Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[{"name":"Giannina Gaslini Institute Unit of Neuroradiology Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Schiaffino","sequence":"additional","affiliation":[{"name":"Giannina Gaslini Institute Pediatric Clinic Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luisa","family":"Garr\u00e8","sequence":"additional","affiliation":[{"name":"Giannina Gaslini Institute Neurosurgery Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Bocciardi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy"},{"name":"G. 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Gaslini Institute, Laboratory of Molecular Genetics Genoa Italy 7 Giannina Gaslini Institute, Rare Diseases, Pediatric Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Rossi","sequence":"additional","affiliation":[{"name":"Giannina Gaslini Institute Unit of Neuroradiology Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Giannina Gaslini Institute Rare Diseases, Pediatric Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.178"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2936"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0128-13.2013"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2950"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6563-x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6562-y"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6563-x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/not008"},{"key":"e_1_2_5_10_1","first-page":"437","article-title":"Fibrodysplasia ossificans progressiva: Diagnosis, management, and therapeutic horizons","volume":"10","author":"Pignolo RJ","year":"2013","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1783"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2925"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2938"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37271","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:58:26Z","timestamp":1696625906000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,4]]},"references-count":12,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/ajmg.a.37271"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37271","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,4]]}}}