{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:19:47Z","timestamp":1740125987064,"version":"3.37.3"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,10,10]],"date-time":"2017-10-10T00:00:00Z","timestamp":1507593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 6\u2010year\u2010old Caucasian girl with clinical and histopathologic features of Buschke\u2010Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke\u2010Ollendorff syndrome were found in the girl's mother. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">LEMD<\/jats:styled-content>3<\/jats:italic> are pathogenic for Buschke\u2010Ollendorff syndrome. Analysis of all exons and exon\u2010intron junctions of <jats:italic><jats:styled-content style=\"fixed-case\">LEMD<\/jats:styled-content>3<\/jats:italic> did not reveal any germline mutations.<\/jats:p>","DOI":"10.1111\/pde.13287","type":"journal-article","created":{"date-parts":[[2017,10,11]],"date-time":"2017-10-11T03:46:41Z","timestamp":1507693601000},"source":"Crossref","is-referenced-by-count":1,"title":["Juvenile elastoma without germline mutations in <i><scp>LEMD<\/scp>3<\/i> gene: A case of Buschke\u2010Ollendorff syndrome?"],"prefix":"10.1111","volume":"34","author":[{"given":"Alessandra","family":"Condorelli","sequence":"first","affiliation":[{"name":"Department of Dermatology Vittorio Emanuele\u2010Policlinic Hospital Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2451-1158","authenticated-orcid":false,"given":"Nicolo","family":"Musso","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences Section of Medical Biochemistry University of Catania Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Scuderi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Vittorio Emanuele\u2010Policlinic Hospital Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele F.","family":"Condorelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences Section of Medical Biochemistry University of Catania Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenza","family":"Barresi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences Section of Medical Biochemistry University of Catania Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocco","family":"De Pasquale","sequence":"additional","affiliation":[{"name":"Department of Dermatology Vittorio Emanuele\u2010Policlinic Hospital Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,10]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1453"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01177.x"},{"key":"e_1_2_3_4_1","first-page":"144","article-title":"Buschke\u2010Ollendorff syndrome accidentally diagnosed after a left ankle sprain","volume":"14","author":"Lygdas P","year":"2014","journal-title":"J Musculoskelet Neuronal Interact"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2009.320"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-0960.2005.00194.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13287","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T09:48:49Z","timestamp":1695548929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,10]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/pde.13287"],"URL":"https:\/\/doi.org\/10.1111\/pde.13287","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2017,10,10]]}}}