{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:56:32Z","timestamp":1791291392718,"version":"4.3.0"},"reference-count":9,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"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":[[2007,2]]},"DOI":"10.1016\/j.jaad.2006.09.019","type":"journal-article","created":{"date-parts":[[2006,11,8]],"date-time":"2006-11-08T07:30:00Z","timestamp":1162971000000},"page":"264-267","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":73,"title":["Clinical diagnosis of incontinentia pigmenti in a cohort of male patients"],"prefix":"10.1016","volume":"56","author":[{"given":"Francesca","family":"Fusco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Fimiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Tadini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D'Urso","family":"Michele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde Valeria","family":"Ursini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2006.09.019_bib1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.30.1.53","article-title":"Incontinentia pigmenti (Bloch-Sulzberger syndrome)","volume":"30","author":"Landy","year":"1993","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaad.2006.09.019_bib2","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/hmg\/ddh192","article-title":"Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation","volume":"13","author":"Fusco","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaad.2006.09.019_bib3","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","article-title":"Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium","volume":"405","author":"Smahi","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.jaad.2006.09.019_bib4","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","article-title":"X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling","volume":"27","author":"Doffinger","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2006.09.019_bib5","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/ajmg.1320530207","article-title":"Ectodermal dysplasias: a clinical classification and a causal review","volume":"53","author":"Pinheiro","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaad.2006.09.019_bib6","series-title":"Molecular cloning: a laboratory manual","author":"Sambrook","year":"1989"},{"key":"10.1016\/j.jaad.2006.09.019_bib7","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/humu.10150","article-title":"Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to\u00a0discriminate NEMO\/IKKgamma gene deletion","volume":"21","author":"Bardaro","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaad.2006.09.019_bib8","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1086\/324591","article-title":"Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome","volume":"69","author":"Kenwrick","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2006.09.019_bib9","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/S0140-6736(00)02661-1","article-title":"Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males","volume":"356","author":"Clayton-Smith","year":"2000","journal-title":"Lancet"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S019096220602545X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S019096220602545X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T22:05:58Z","timestamp":1759269958000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S019096220602545X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["S019096220602545X"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2006.09.019","relation":{},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2007,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical diagnosis of incontinentia pigmenti in a cohort of male patients","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.2006.09.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}