{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:15:12Z","timestamp":1790032512933,"version":"4.0.1"},"reference-count":15,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81573032"],"award-info":[{"award-number":["81573032"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81872515"],"award-info":[{"award-number":["81872515"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010261","name":"Fok Ying Tung Education Foundation","doi-asserted-by":"publisher","award":["161038"],"award-info":[{"award-number":["161038"]}],"id":[{"id":"10.13039\/501100010261","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.jdermsci.2020.02.005","type":"journal-article","created":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T14:05:39Z","timestamp":1582293939000},"page":"35-40","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization"],"prefix":"10.1016","volume":"98","author":[{"given":"Yuxue","family":"Pan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingyang","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanli","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2020.02.005_bib0005","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0010","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1126\/science.1192280","article-title":"Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10","volume":"330","author":"Choate","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0015","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1172\/JCI64415","article-title":"Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti","volume":"125","author":"Choate","year":"2015","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0020","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1016\/j.jid.2016.05.109","article-title":"Revertant mosaicism in Ichthyosis with confetti caused by a frameshift mutation in KRT1","volume":"136","author":"Suzuki","year":"2016","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0025","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/j.1365-2133.2011.10639.x","article-title":"Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation","volume":"166","author":"Burger","year":"2012","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0030","doi-asserted-by":"crossref","first-page":"579","DOI":"10.2340\/00015555-1796","article-title":"Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10","volume":"94","author":"Diociaiuti","year":"2014","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0035","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1001\/jamadermatol.2014.2526","article-title":"The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3\u2019 end of KRT10: from disease to a syndrome","volume":"151","author":"Spoerri","year":"2015","journal-title":"JAMA Dermatol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0040","doi-asserted-by":"crossref","first-page":"473","DOI":"10.2340\/00015555-2299","article-title":"Expanding the clinical and genetic spectrum of KRT1, KRT2 and KRT10 mutations in keratinopathic ichthyosis","volume":"96","author":"Hotz","year":"2016","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0045","doi-asserted-by":"crossref","DOI":"10.1016\/j.jid.2016.04.023","article-title":"Genetic reversion via mitotic recombination in Ichthyosis with confetti due to a KRT10 polyalanine frameshift mutation","author":"Lim","year":"2016","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0050","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1111\/ced.13097","article-title":"Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10","volume":"42","author":"Foo","year":"2017","journal-title":"Clin. Exp. Dermatol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0055","doi-asserted-by":"crossref","first-page":"130","DOI":"10.2340\/00015555-2776","article-title":"Ichthyosis with confetti inherited from a mosaic father","volume":"98","author":"Pallesen","year":"2018","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0060","doi-asserted-by":"crossref","first-page":"3093","DOI":"10.1002\/ajmg.a.38403","article-title":"Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber\u2019s hereditary optic neuropathy","volume":"173","author":"Kalinska-Bienias","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0065","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.97595","article-title":"Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes","volume":"3","author":"Nomura","year":"2018","journal-title":"JCI Insight"},{"issue":"4","key":"10.1016\/j.jdermsci.2020.02.005_bib0070","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81894-2","article-title":"Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion","volume":"88","author":"Jonkman","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.jdermsci.2020.02.005_bib0075","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1001\/jamadermatol.2014.2525","article-title":"Phenotypic expansion in ichthyosis with confetti","volume":"151","author":"Choate","year":"2015","journal-title":"JAMA Dermatol."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181120300761?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181120300761?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T04:50:21Z","timestamp":1760331021000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181120300761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S0923181120300761"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2020.02.005","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2020.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}