{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:46Z","timestamp":1792166626488,"version":"4.4.0"},"reference-count":10,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["16390312"],"award-info":[{"award-number":["16390312"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["18390310"],"award-info":[{"award-number":["18390310"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaad.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American Academy of Dermatology"],"published-print":{"date-parts":[[2008,4]]},"DOI":"10.1016\/j.jaad.2007.12.018","type":"journal-article","created":{"date-parts":[[2008,2,11]],"date-time":"2008-02-11T07:05:37Z","timestamp":1202713537000},"page":"653-656","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["DNA-based prenatal exclusion of harlequin ichthyosis"],"prefix":"10.1016","volume":"58","author":[{"given":"Teruki","family":"Yanagi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akari","family":"Nagasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuaki","family":"Ozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruhiko","family":"Sago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2007.12.018_bib1","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1001\/archderm.142.7.914","article-title":"Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases","volume":"142","author":"Akiyama","year":"2006","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaad.2007.12.018_bib2","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/S0140-6736(83)91780-4","article-title":"Prenatal diagnosis of Harlequin fetus","volume":"1","author":"Blanchet-Bardon","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.jaad.2007.12.018_bib3","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/pd.1970110707","article-title":"Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases","volume":"11","author":"Suzumori","year":"1991","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jaad.2007.12.018_bib4","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1172\/JCI24834","article-title":"Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer","volume":"115","author":"Akiyama","year":"2005","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaad.2007.12.018_bib5","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1086\/429844","article-title":"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis","volume":"76","author":"Kelsell","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2007.12.018_bib6","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000069811","article-title":"Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34","volume":"98","author":"Annilo","year":"2002","journal-title":"Cytogenet Genome Res"},{"key":"10.1016\/j.jaad.2007.12.018_bib7","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/sj.jid.5700617","article-title":"DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences","volume":"127","author":"Akiyama","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2007.12.018_bib8","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1093\/hmg\/ddg235","article-title":"Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2","volume":"12","author":"Lefevre","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaad.2007.12.018_bib9","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1111\/j.1365-2133.2006.07434.x","article-title":"A novel ABCA12 mutation 3270delT causes harlequin ichthyosis","volume":"5","author":"Akiyama","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2007.12.018_bib10","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1038\/sj.jid.5700295","article-title":"Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity","volume":"126","author":"Akiyama","year":"2006","journal-title":"J Invest Dermatol"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962207025376?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962207025376?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T22:08:20Z","timestamp":1759270100000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962207025376"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["S0190962207025376"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2007.12.018","relation":{},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2008,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DNA-based prenatal exclusion of harlequin ichthyosis","name":"articletitle","label":"Article Title"},{"value":"Journal of the American Academy of Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaad.2007.12.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}