{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T11:16:56Z","timestamp":1777461416116,"version":"3.51.4"},"reference-count":4,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T00:00:00Z","timestamp":1687219200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,19]]},"abstract":"<jats:p>Here, we report two novel mutations in SASH1 (p.S510C and p.T525I) identified, respectively, in a family with nonsyndromic generalized lentiginosis, and in a sporadic case with early onset of multiple lentigines on the face and hypomelanosis of Ito in Koreans. Our findings will expand the spectrum of SASH1 mutations in a familial and a sporadic lentiginosis phenotype.<\/jats:p>","DOI":"10.1093\/ced\/llad199","type":"journal-article","created":{"date-parts":[[2023,6,17]],"date-time":"2023-06-17T15:01:31Z","timestamp":1687014091000},"page":"1171-1173","source":"Crossref","is-referenced-by-count":5,"title":["Two novel mutations in <i>SASH1<\/i> identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0208-3121","authenticated-orcid":false,"given":"Jae Yeon","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine , Seoul , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Il Joo","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine , Seoul , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9955","authenticated-orcid":false,"given":"Sang Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine , Seoul , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"key":"2023091916465852400_llad199-B1","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1186\/s12920-021-01014-w","article-title":"Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria","volume":"14","author":"Cao","year":"2021","journal-title":"BMC Med Genomics"},{"key":"2023091916465852400_llad199-B2","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/ejhg.2014.213","article-title":"Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma","volume":"23","author":"Courcet","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2023091916465852400_llad199-B3","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1111\/pcmr.12930","article-title":"Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families","volume":"34","author":"Araki","year":"2021","journal-title":"Pigment Cell Melanoma Res"},{"key":"2023091916465852400_llad199-B4","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/j.1365-2133.2004.06057.x","article-title":"Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes","volume":"151","author":"Taibjee","year":"2004","journal-title":"Br J Dermatol"}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ced\/advance-article-pdf\/doi\/10.1093\/ced\/llad199\/50887605\/llad199.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/48\/10\/1171\/51685190\/llad199.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/48\/10\/1171\/51685190\/llad199.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T17:07:33Z","timestamp":1695143253000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/article\/48\/10\/1171\/7202413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,20]]},"references-count":4,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,6,20]]},"published-print":{"date-parts":[[2023,9,19]]}},"URL":"https:\/\/doi.org\/10.1093\/ced\/llad199","relation":{},"ISSN":["0307-6938","1365-2230"],"issn-type":[{"value":"0307-6938","type":"print"},{"value":"1365-2230","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,10]]},"published":{"date-parts":[[2023,6,20]]}}}