{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T07:24:35Z","timestamp":1786951475034,"version":"build-2736575974"},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T00:00:00Z","timestamp":1778112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaadcasereports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JAAD Case Reports"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.jdcr.2026.05.017","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T13:09:48Z","timestamp":1778764188000},"page":"259-263","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Expanding the phenotypic spectrum of ILNEB: Absence of classic dermatologic findings in a 12-year-old girl with homozygous ITGA3 p.Arg274Gln"],"prefix":"10.1016","volume":"74","author":[{"given":"Rahaf","family":"Bashihab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alanoud Sultan","family":"Alsuhibani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aser Mohammed","family":"Alsuhaymi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Abdulaziz","family":"Alosaimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdcr.2026.05.017_bib1","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","article-title":"Integrin \u03b13 mutations with kidney, lung, and skin disease","volume":"366","author":"Has","year":"2012","journal-title":"N Engl J Med"},{"issue":"12","key":"10.1016\/j.jdcr.2026.05.017_bib2","doi-asserted-by":"crossref","first-page":"4375","DOI":"10.1172\/JCI64100","article-title":"Gain of glycosylation in integrin \u03b13 causes lung disease and nephrotic syndrome","volume":"122","author":"Nicolaou","year":"2012","journal-title":"J Clin Invest"},{"issue":"13","key":"10.1016\/j.jdcr.2026.05.017_bib3","first-page":"3679","article-title":"Crucial role of posttranslational modifications of integrin \u03b13 in interstitial lung disease and nephrotic syndrome","volume":"24","author":"Yalcin","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jdcr.2026.05.017_bib4","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1016\/j.jid.2015.11.031","article-title":"Intronic ITGA3 mutation impacts splicing regulation and causes interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa","volume":"136","author":"He","year":"2016","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdcr.2026.05.017_bib5","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1186\/s13023-016-0514-z","article-title":"Viable phenotype of ILNEB without nephrotic impairment in siblings","volume":"11","author":"Colombo","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"10.1016\/j.jdcr.2026.05.017_bib6","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104335","article-title":"First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood","volume":"64","author":"Alstrup","year":"2021","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jdcr.2026.05.017_bib7","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.jdcr.2023.10.007","article-title":"Integrin \u03b13 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction","volume":"43","author":"Alshihry","year":"2024","journal-title":"JAAD Case Rep"},{"issue":"1","key":"10.1016\/j.jdcr.2026.05.017_bib8","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1186\/s13023-022-02508-1","article-title":"The role of exome sequencing in childhood interstitial or diffuse lung disease","volume":"17","author":"Temple","year":"2022","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.jdcr.2026.05.017_bib9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0090879","article-title":"A human ITGA3 mutation confers major renal developmental defects","volume":"9","author":"Shukrun","year":"2014","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.jdcr.2026.05.017_bib10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["JAAD Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352512626002870?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352512626002870?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T06:37:29Z","timestamp":1786948649000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352512626002870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":10,"alternative-id":["S2352512626002870"],"URL":"https:\/\/doi.org\/10.1016\/j.jdcr.2026.05.017","relation":{},"ISSN":["2352-5126"],"issn-type":[{"value":"2352-5126","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the phenotypic spectrum of ILNEB: Absence of classic dermatologic findings in a 12-year-old girl with homozygous ITGA3 p.Arg274Gln","name":"articletitle","label":"Article Title"},{"value":"JAAD Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdcr.2026.05.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Published by Elsevier Inc. on behalf of the American Academy of Dermatology, Inc.","name":"copyright","label":"Copyright"}]}}