{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:26:36Z","timestamp":1791973596799,"version":"4.4.0"},"reference-count":8,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Herscot Center for TSC, Massachusetts General Hospital"}],"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>Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems, primarily the skin, brain, heart, kidneys, lungs, and eyes. The skeletal system is commonly affected in patients with TSC, but these bone lesions are generally asymptomatic and have not been well characterized. We present clinically significant bone growth in two ribs and vertebrae in an 8\u2010year\u2010old male patient with TSC and discuss the effects of mammalian target of rapamycin (mTOR) inhibitors as a possible treatment for these osseous abnormalities. This report suggests that skeletal lesions may hold more clinical significance than previously assumed and that further research should be directed toward understanding bone involvement in TSC. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37235","type":"journal-article","created":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T22:09:28Z","timestamp":1436911768000},"page":"2755-2757","source":"Crossref","is-referenced-by-count":12,"title":["Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex"],"prefix":"10.1002","volume":"167","author":[{"given":"Patrick","family":"Li","sequence":"first","affiliation":[{"name":"Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Boronat","sequence":"additional","affiliation":[{"name":"Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"},{"name":"Pediatric Neurology, Vall d'Hebron Hospital Universitat Aut\u00f2noma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra Lauryn","family":"Geffrey","sequence":"additional","affiliation":[{"name":"Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignasi","family":"Barber","sequence":"additional","affiliation":[{"name":"Pediatric Radiology, Vall d'Hebron Hospital Universitat Aut\u00f2noma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian Edward","family":"Grottkau","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth Anne","family":"Thiele","sequence":"additional","affiliation":[{"name":"Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,7,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.09090227"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388800300211"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.178.3.1780717"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/157015912804499537"},{"key":"e_1_2_5_6_1","first-page":"835","article-title":"Tuberous sclerosis and fibrous dysplasia","volume":"24","author":"Gaspareto EL","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/9783527630073"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2006.05.004"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"}],"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.37235","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:59:23Z","timestamp":1696625963000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,14]]},"references-count":8,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/ajmg.a.37235"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37235","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,14]]}}}