{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T09:04:45Z","timestamp":1753520685944},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T00:00:00Z","timestamp":1489104000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of congenital hypertrichosis and <jats:italic><jats:styled-content style=\"fixed-case\">FOXN<\/jats:styled-content>1<\/jats:italic> duplication. <jats:italic><jats:styled-content style=\"fixed-case\">FOXN<\/jats:styled-content>1<\/jats:italic> is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Loss of function of these transcription factors leads to a disruption in hair growth. As far as we are aware, this is the first case of <jats:italic><jats:styled-content style=\"fixed-case\">FOXN<\/jats:styled-content>1<\/jats:italic> duplication associated with congenital hypertrichosis to be reported in the literature.<\/jats:p>","DOI":"10.1111\/pde.13078","type":"journal-article","created":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T14:24:49Z","timestamp":1489155889000},"source":"Crossref","is-referenced-by-count":2,"title":["<i><scp>FOXN<\/scp>1<\/i> Duplication and Congenital Hypertrichosis"],"prefix":"10.1111","volume":"34","author":[{"given":"Eimear","family":"Gilhooley","sequence":"first","affiliation":[{"name":"Our Lady of Lourdes Hospital Drogheda County Louth Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siobhan","family":"Gormally","sequence":"additional","affiliation":[{"name":"Our Lady of Lourdes Hospital Drogheda County Louth Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Irvine","sequence":"additional","affiliation":[{"name":"Clinical Medicine Trinity College Dublin Ireland"},{"name":"National Children's Research Centre Dublin Ireland"},{"name":"Paediatric Dermatology Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[{"name":"Our Lady's Children's Hospital Crumlin Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinead","family":"Collins","sequence":"additional","affiliation":[{"name":"Our Lady of Lourdes Hospital Drogheda County Louth Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,10]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/18997"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2003.100"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.018"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<100::AID-AJMG1396>3.0.CO;2-O"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<87::AID-AJMG16>3.0.CO;2-T"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00977.x"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2005.00362.x"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.4845"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13078","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T21:30:25Z","timestamp":1696023025000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/pde.13078"],"URL":"https:\/\/doi.org\/10.1111\/pde.13078","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}