{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:14:53Z","timestamp":1761743693024},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,10,5]],"date-time":"2012-10-05T00:00:00Z","timestamp":1349395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Trichothiodystrophy (<jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>) is a rare, recessive condition involving multiple organs and systems. Four genes associated with nuclear excision repair have been described in the molecular etiology of <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>. There is a significant heterogeneity of clinical and laboratory findings of <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>, even in individuals carrying the same mutation. Worldwide, approximately 120 cases have been reported, mostly from Western populations and the mutations are compound heterozygous. We herein present clinical and laboratory findings of a female patient with a homozygous mutation, <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>722<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>, in the <jats:styled-content style=\"fixed-case\"><jats:italic>XPD<\/jats:italic><\/jats:styled-content> gene. To date, two patients who carry the same mutation have been reported. Our genotype\u2013phenotype correlation study showed patients who carry <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>722<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content> mutation have a more severe <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> phenotype than other types of mutations.<\/jats:p>","DOI":"10.1111\/j.1346-8138.2012.01662.x","type":"journal-article","created":{"date-parts":[[2012,10,5]],"date-time":"2012-10-05T16:38:05Z","timestamp":1349455085000},"page":"1016-1021","source":"Crossref","is-referenced-by-count":8,"title":["A Turkish trichothiodystrophy patient with homozygous <i>XPD<\/i> mutation and genotype\u2013phenotype relationship"],"prefix":"10.1111","volume":"39","author":[{"given":"Davut","family":"Pehlivan","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kivanc","family":"Cefle","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Raams","sequence":"additional","affiliation":[{"name":"Department of Genetics Erasmus Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukru","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Can","family":"Baykal","sequence":"additional","affiliation":[{"name":"Department of Dermatology Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim J.","family":"Kleijer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukru","family":"Palanduz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolaas G. J.","family":"Jaspers","sequence":"additional","affiliation":[{"name":"Department of Genetics Erasmus Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,10,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp390"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/428141"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.859501"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2009.10.005"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/512486"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp023"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2010.01.015"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.123"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20912"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20768"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.24.2797"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302063"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-189"},{"key":"e_1_2_5_17_1","first-page":"263","article-title":"Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy","volume":"58","author":"Takayama K","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80098-2"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32902"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2006.12.020"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01336.x"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/85864"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90073-C"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1346-8138.2012.01662.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1346-8138.2012.01662.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T09:37:53Z","timestamp":1698658673000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1346-8138.2012.01662.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,5]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/j.1346-8138.2012.01662.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1346-8138.2012.01662.x","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,5]]}}}