{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T00:05:32Z","timestamp":1759017932054,"version":"3.44.0"},"reference-count":14,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales de Dermatologie et de V\u00e9n\u00e9r\u00e9ologie"],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1016\/j.annder.2008.04.018","type":"journal-article","created":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T05:18:27Z","timestamp":1217567907000},"page":"28-31","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Dysplasie ectodermique anhidrotique familiale\u00a0: une mutation rare du g\u00e8ne EDA1"],"prefix":"10.1016","volume":"136","author":[{"given":"R.","family":"Tomb","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Soutou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Zalloua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.annder.2008.04.018_bib1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1111\/j.1365-4362.1980.tb05898.x","article-title":"So-called \u201canhidrotic ectodermal dysplasia\u201d","volume":"19","author":"Freire-Maia","year":"1980","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.annder.2008.04.018_bib2","first-page":"3","article-title":"Ectodermal dysplasias \u2013 some recollections and a classification","volume":"24","author":"Freire-Maia","year":"1988","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.annder.2008.04.018_bib3","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1136\/jmg.38.9.579","article-title":"Ectodermal dysplasias: a new clinical-genetic classification","volume":"38","author":"Priolo","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.annder.2008.04.018_bib4","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1046\/j.1365-2230.2003.01319.x","article-title":"Towards a new classification of ectodermal dysplasias","volume":"28","author":"Lamartine","year":"2003","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.annder.2008.04.018_bib5","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1086\/301984","article-title":"Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations","volume":"63","author":"Monreal","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.annder.2008.04.018_bib6","first-page":"1276","article-title":"Dysplasies ectodermiques hypohidrotiques","volume":"129","author":"Plottova-Puech","year":"2002","journal-title":"Ann Dermatol Venereol"},{"year":"1997","series-title":"Genetic Skin Disorders","author":"Sybert","key":"10.1016\/j.annder.2008.04.018_bib7"},{"key":"10.1016\/j.annder.2008.04.018_bib8","first-page":"277","article-title":"Dysplasies ectodermiques anhidrotiques et incontinentia pigmenti. Les pi\u00e8ces d\u2019un m\u00eame puzzle","volume":"129","author":"Hadj-Rabia","year":"2002","journal-title":"Ann Dermatol Venereol"},{"key":"10.1016\/j.annder.2008.04.018_bib9","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20295","article-title":"Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia","volume":"27","author":"Chassaing","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.annder.2008.04.018_bib10","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/414913a","article-title":"Gene defect in ectodermal dysplasia implicates a death domain adapter in development","volume":"414","author":"Headon","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.annder.2008.04.018_bib11","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/humu.20500","article-title":"Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus","volume":"28","author":"Bal","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.annder.2008.04.018_bib12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1046\/j.1365-2133.1999.02954.x","article-title":"Intolerance of isotretinoin in a patient with anhidrotic ectodermal dysplasia","volume":"141","author":"Kirby","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.annder.2008.04.018_bib13","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.arcmed.2005.06.016","article-title":"Ectodermal dysplasia: retrospective study of 15 cases","volume":"37","author":"Yavuz","year":"2006","journal-title":"Arch Med Res"},{"key":"10.1016\/j.annder.2008.04.018_bib14","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.c.30033","article-title":"Ectodermal dysplasias","volume":"131C","author":"Itin","year":"2004","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["Annales de Dermatologie et de V\u00e9n\u00e9r\u00e9ologie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0151963808004444?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0151963808004444?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T10:54:13Z","timestamp":1758970453000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0151963808004444"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["S0151963808004444"],"URL":"https:\/\/doi.org\/10.1016\/j.annder.2008.04.018","relation":{},"ISSN":["0151-9638"],"issn-type":[{"type":"print","value":"0151-9638"}],"subject":[],"published":{"date-parts":[[2009,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dysplasie ectodermique anhidrotique familiale\u00a0: une mutation rare du g\u00e8ne EDA1","name":"articletitle","label":"Article Title"},{"value":"Annales de Dermatologie et de V\u00e9n\u00e9r\u00e9ologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.annder.2008.04.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}