{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:43:33Z","timestamp":1791899013872,"version":"4.3.4"},"reference-count":17,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2005,11]]},"DOI":"10.1016\/j.jaad.2005.02.007","type":"journal-article","created":{"date-parts":[[2005,10,18]],"date-time":"2005-10-18T07:21:02Z","timestamp":1129620062000},"page":"S247-S251","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"special_numbering":"S","title":["Cutis laxa in Kabuki make-up syndrome"],"prefix":"10.1016","volume":"53","author":[{"given":"Mario","family":"Vaccaro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damiano Carmelo","family":"Salpietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Briuglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Valeria","family":"Merlino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Guarneri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2005.02.007_bib1","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0022-3476(81)80255-7","article-title":"Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency","volume":"99","author":"Niikawa","year":"1981","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaad.2005.02.007_bib2","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/S0022-3476(81)80256-9","article-title":"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation","volume":"99","author":"Kuroki","year":"1981","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaad.2005.02.007_bib3","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ajmg.1320310312","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients","volume":"31","author":"Niikawa","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib4","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/ajmg.c.10020","article-title":"Kabuki make-up syndrome: a review","volume":"117C","author":"Matsumoto","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib5","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S","article-title":"Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management","volume":"79","author":"Wilson","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib6","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/S0022-3476(99)70207-6","article-title":"Phenotypic spectrum and management issues in Kabuki syndrome","volume":"134","author":"Kawame","year":"1999","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaad.2005.02.007_bib7","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1265","article-title":"Congenital heart defects in Kabuki syndrome","volume":"100","author":"Digilio","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib8","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.20674","article-title":"Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome","volume":"127","author":"White","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jaad.2005.02.007_bib9","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1097\/00019605-200204000-00004","article-title":"Kabuki syndrome: a review study of three hundred patients","volume":"11","author":"Wessels","year":"2002","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.jaad.2005.02.007_bib10","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1002\/1096-8628(20000731)93:3<244::AID-AJMG17>3.0.CO;2-2","article-title":"Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome","volume":"93","author":"Courtens","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib11","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1046\/j.1399-0004.2003.00189.x","article-title":"Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH","volume":"64","author":"Milunsky","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib12","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/ajmg.a.30137","article-title":"On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS","volume":"128","author":"Miyake","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jaad.2005.02.007_bib13","first-page":"784","article-title":"Kabuki make-up syndrome: abnormalities of the fingertips and cutaneous hyperelasticity","volume":"118","author":"Stalder","year":"1991","journal-title":"Ann Dermatol Venereol"},{"key":"10.1016\/j.jaad.2005.02.007_bib14","doi-asserted-by":"crossref","first-page":"6465","DOI":"10.1016\/S0021-9258(18)68662-4","article-title":"Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide","volume":"263","author":"Olsen","year":"1988","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaad.2005.02.007_bib15","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S0945-053X(00)00099-8","article-title":"Genetic disorders of the elastic fiber system","volume":"19","author":"Milewicz","year":"2000","journal-title":"Matrix Biol"},{"key":"10.1016\/j.jaad.2005.02.007_bib16","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<263::AID-AJMG6>3.0.CO;2-T","article-title":"Ectodermal abnormalities in Kabuki syndrome","volume":"73","author":"Lerone","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2005.02.007_bib17","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/ajmg.1320560202","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations","volume":"56","author":"Ilyina","year":"1995","journal-title":"Am J Med Genet"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962205006742?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962205006742?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T21:38:05Z","timestamp":1759268285000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962205006742"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["S0190962205006742"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2005.02.007","relation":{},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cutis laxa in Kabuki make-up syndrome","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.2005.02.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}