{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T05:41:00Z","timestamp":1696052460517},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T00:00:00Z","timestamp":1364947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ichthyosis follicularis, alopecia, and photophobia (<jats:styled-content style=\"fixed-case\">IFAP<\/jats:styled-content>) syndrome is an X\u2010linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">MBTPS<\/jats:styled-content>2<\/jats:italic> gene. Herein we describe a proband with <jats:styled-content style=\"fixed-case\">IFAP<\/jats:styled-content> syndrome with mild cutaneous manifestations and a novel <jats:italic><jats:styled-content style=\"fixed-case\">MBTPS<\/jats:styled-content>2<\/jats:italic> mutation in the N\u2010terminal transmembrane domain.<\/jats:p>","DOI":"10.1111\/pde.12115","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T08:11:44Z","timestamp":1364976704000},"source":"Crossref","is-referenced-by-count":5,"title":["Novel <i><scp>MBTPS<\/scp>2<\/i> Missense Mutation in the N\u2010Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome"],"prefix":"10.1111","volume":"30","author":[{"given":"Kosuke","family":"Izumi","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alisha","family":"Wilkens","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Treat","sequence":"additional","affiliation":[{"name":"Section of Dermatology Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Howard B.","family":"Pride","sequence":"additional","affiliation":[{"name":"Department of Dermatology Geisinger Medical Center Danville Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian D.","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-29"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.014"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09890.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80006-4"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21335"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T00:20:29Z","timestamp":1696033229000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,3]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1111\/pde.12115"],"URL":"https:\/\/doi.org\/10.1111\/pde.12115","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,3]]}}}