{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T05:10:09Z","timestamp":1779426609466,"version":"3.53.1"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"10","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Laminopathies represent a group of inherited disorders, with emerging novel and atypical manifestations. We present the case of a 17-year-old boy with LMNA mutation, showing dilated cardiomyopathy, aortic root dilatation, pontine cavernous angiomas, sensorineural hearing loss, and osteogenic sarcoma. These findings expand the known phenotypic spectrum of laminopathies and highlight the need for multidisciplinary evaluation from a young age.<\/jats:p>","DOI":"10.1017\/s1047951125109311","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T10:42:56Z","timestamp":1759228976000},"page":"2193-2194","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Atypical clinical features in a young boy with LMNA mutation: expanding the spectrum of laminopathies"],"prefix":"10.1017","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9888-2395","authenticated-orcid":false,"given":"Nicoletta","family":"Cantarutti","sequence":"first","affiliation":[{"name":"Bambino Ges\u00f9 Children\u2019s Hospital IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria C.","family":"Casarini","sequence":"additional","affiliation":[{"name":"Sapienza University of Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1888-373X","authenticated-orcid":false,"given":"Fabrizio","family":"Drago","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children\u2019s Hospital IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"S1047951125109311_ref6","first-page":"13358","article-title":"Advances in research on the relationship between the LMNA gene and human diseases (Review)","volume":"29","author":"Zhao","year":"2024","journal-title":"Mol MedRep"},{"key":"S1047951125109311_ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvaa108"},{"key":"S1047951125109311_ref2","first-page":"285","article-title":"Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"NatGenet"},{"key":"S1047951125109311_ref8","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.101.15.1812"},{"key":"S1047951125109311_ref3","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00374"},{"key":"S1047951125109311_ref10","first-page":"388","article-title":"CNOT1 cooperates with LMNA to aggravate osteosarcoma tumorigenesis through the Hedgehog signaling pathway","volume":"11","author":"Cheng","year":"2017","journal-title":"MolOncol"},{"key":"S1047951125109311_ref4","first-page":"59","article-title":"Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin a\/c gene","volume":"86","author":"Garg","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"S1047951125109311_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00039-2"},{"key":"S1047951125109311_ref1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20110670"},{"key":"S1047951125109311_ref9","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000469"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951125109311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T04:56:35Z","timestamp":1779425795000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951125109311\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,30]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["S1047951125109311"],"URL":"https:\/\/doi.org\/10.1017\/s1047951125109311","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,30]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}