{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T01:27:20Z","timestamp":1749778040759},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T00:00:00Z","timestamp":1431907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Legius syndrome (<jats:styled-content style=\"fixed-case\">O<\/jats:styled-content>nline <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>endelian <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>nheritance in <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>an no.\u00a0611431) or neurofibromatosis type 1 (<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1)\u2010like syndrome was first reported by Legius <jats:italic>et\u00a0al<\/jats:italic>. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe\u2010au\u2010lait macules and freckling. Mutation analysis revealed a mutation of c.349C&gt;T resulting in p.Arg117* in the <jats:italic><jats:styled-content style=\"fixed-case\">SPRED<\/jats:styled-content>1<\/jats:italic> gene as the cause of the Legius syndrome. The <jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>ational <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>nstitutes of <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>ealth criteria for <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 clearly.<\/jats:p>","DOI":"10.1111\/1346-8138.12862","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T05:58:12Z","timestamp":1431928692000},"page":"703-705","source":"Crossref","is-referenced-by-count":2,"title":["Family with Legius syndrome (neurofibromatosis type 1\u2010like syndrome)"],"prefix":"10.1111","volume":"42","author":[{"given":"Noriyasu","family":"Sakai","sequence":"first","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuro","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kawakami","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazutoshi","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoji","family":"Tsuboi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Mitsuhashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tokyo Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2113"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35297"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22152"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12567"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.190876.112"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33525"},{"key":"e_1_2_5_8_1","unstructured":"StevensonD ViskochilD MaoR.Legius syndrome. GeneReviewshttp:\/\/www.ncbi.nlm.nih.gov\/books\/NBK47312\/"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21404"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12862","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T19:46:46Z","timestamp":1695498406000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,18]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/1346-8138.12862"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12862","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,18]]}}}