{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:09:07Z","timestamp":1788869347815,"version":"build-2803163510"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":258,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["5663\/2-1"],"award-info":[{"award-number":["5663\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["1795\/1-1"],"award-info":[{"award-number":["1795\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Dermatol"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1111\/bjd.13159","type":"journal-article","created":{"date-parts":[[2014,6,5]],"date-time":"2014-06-05T11:26:36Z","timestamp":1401967596000},"page":"276-278","source":"Crossref","is-referenced-by-count":1,"title":["\u2018Double trouble\u2019: diagnostic challenges in genetic skin disorders"],"prefix":"10.1093","volume":"172","author":[{"given":"D.","family":"Kiritsi","sequence":"first","affiliation":[{"name":"Department of Dermatology; Medical Center-University of Freiburg; Hauptstra\u00dfe 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Valari","sequence":"additional","affiliation":[{"name":"Department of Dermatology; Agia Sofia Children's Hospital; Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Mileounis","sequence":"additional","affiliation":[{"name":"Private Dermatology Practice; Palaio Faliro Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bruckner-Tuderman","sequence":"additional","affiliation":[{"name":"Department of Dermatology; Medical Center-University of Freiburg; Hauptstra\u00dfe 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology; Medical Center-University of Freiburg; Hauptstra\u00dfe 7 79104 Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,12,17]]},"reference":[{"key":"10.1111\/bjd.13159-BIB0001|bjd13159-cit-0001","doi-asserted-by":"crossref","first-page":"262","DOI":"10.4161\/cc.6.3.3796","article-title":"p63-associated disorders","volume":"6","author":"Rinne","year":"2007","journal-title":"Cell Cycle"},{"key":"10.1111\/bjd.13159-BIB0002|bjd13159-cit-0002","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1002\/ajmg.a.31271","article-title":"Pattern of p63 mutations and their phenotypes - update","volume":"140","author":"Rinne","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1111\/bjd.13159-BIB0003|bjd13159-cit-0003","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1111\/j.1525-1470.2010.01131.x","article-title":"ADULT syndrome caused by a mutation previously associated with EEC syndrome","volume":"27","author":"Avitan-Hersh","year":"2010","journal-title":"Pediatr Dermatol"},{"key":"10.1111\/bjd.13159-BIB0004|bjd13159-cit-0004","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/sj.ejhg.5201640","article-title":"Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene","volume":"14","author":"Rinne","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1111\/bjd.13159-BIB0005|bjd13159-cit-0005","doi-asserted-by":"crossref","first-page":"2495","DOI":"10.1002\/ajmg.a.31482","article-title":"Further phenotypic and genetic variation in ADULT syndrome","volume":"140","author":"Reisler","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1111\/bjd.13159-BIB0006|bjd13159-cit-0006","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1086\/323123","article-title":"p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation","volume":"69","author":"Bokhoven","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1111\/bjd.13159-BIB0007|bjd13159-cit-0007","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1111\/j.1365-4632.2011.05375.x","article-title":"ADULT syndrome due to an R243W mutation in TP63","volume":"51","author":"Berk","year":"2012","journal-title":"Int J Dermatol"},{"key":"10.1111\/bjd.13159-BIB0008|bjd13159-cit-0008","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1038\/jid.2010.23","article-title":"Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals","volume":"130","author":"Kiritsi","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.13159-BIB0009|bjd13159-cit-0009","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of Mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1111\/bjd.13159-BIB0010|bjd13159-cit-0010","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1038\/jid.2011.157","article-title":"Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia","volume":"131","author":"Cullinane","year":"2011","journal-title":"J Invest Dermatol"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.13159","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/bjd.13159\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T09:10:25Z","timestamp":1676365825000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/172\/1\/276\/6615761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,17]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"URL":"https:\/\/doi.org\/10.1111\/bjd.13159","relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12,17]]}}}