{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T01:37:49Z","timestamp":1783820269096,"version":"3.55.0"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,11,5]],"date-time":"2016-11-05T00:00:00Z","timestamp":1478304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss\u2010of\u2010function <jats:italic><jats:styled-content style=\"fixed-case\">SPRED<\/jats:styled-content>1<\/jats:italic> mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai <jats:italic>et\u00a0al<\/jats:italic>. We described a first solitary case of Legius syndrome identified by next\u2010generation sequencing in Japan. A 37\u2010year\u2010old woman presented with multiple caf\u00e9\u2010au\u2010lait macules and freckles but has no other features of neurofibromatosis type 1 (<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>\u20101). Sequencing results showed the presence of a mutation in exon 2 of <jats:italic><jats:styled-content style=\"fixed-case\">SPRED<\/jats:styled-content>1<\/jats:italic> c.70C&gt;T, resulting in the protein at position 24 (p.Arg24X). When a dermatological clinician sees an adult patient showing only pigmented lesions and no other specifically diagnostic features of <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>\u20101, it is important to suspect the possibility of Legius syndrome.<\/jats:p>","DOI":"10.1111\/1346-8138.13687","type":"journal-article","created":{"date-parts":[[2016,11,5]],"date-time":"2016-11-05T07:51:06Z","timestamp":1478332266000},"page":"459-460","source":"Crossref","is-referenced-by-count":4,"title":["Legius syndrome: A case report"],"prefix":"10.1111","volume":"44","author":[{"given":"Ryoko","family":"Kimura","sequence":"first","affiliation":[{"name":"Division of Dermatology Department of Medicine of Sensory and Motor Organs Tottori University Faculty of Medicine Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Medicine of Sensory and Motor Organs Tottori University Faculty of Medicine Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Maruoka","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Medicine of Sensory and Motor Organs Tottori University Faculty of Medicine Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2113"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00259-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2302\/kjm.2013-0002-RE"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12862"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22152"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.13687","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.13687","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.13687","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T12:38:18Z","timestamp":1695472698000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.13687"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,5]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1111\/1346-8138.13687"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.13687","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,5]]}}}