{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T09:02:31Z","timestamp":1789376551453,"version":"build-2803163510"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2010,6,9]],"date-time":"2010-06-09T00:00:00Z","timestamp":1276041600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2010,6,9]],"date-time":"2010-06-09T00:00:00Z","timestamp":1276041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1111\/j.1365-2133.2010.09890.x","type":"journal-article","created":{"date-parts":[[2010,6,9]],"date-time":"2010-06-09T21:52:57Z","timestamp":1276120377000},"page":"886-889","source":"Crossref","is-referenced-by-count":15,"title":["A novel mutation in <i>MBTPS2<\/i>\n causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family"],"prefix":"10.1093","volume":"163","author":[{"given":"Y.G.","family":"Ding","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.Y.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.J.","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.H.","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.Q.","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,6,9]]},"reference":[{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB1|cit1","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.ajhg.2009.03.014","article-title":"IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response","volume":"84","author":"Oeffner","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB2|cit2","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1525-1470.2009.00946.x","article-title":"Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred","volume":"26","author":"Ming","year":"2009","journal-title":"Pediatr Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB3|cit3","first-page":"98","article-title":"Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?","volume":"10","author":"Boente","year":"2000","journal-title":"Eur J Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB4|cit4","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/ajmg.a.20352","article-title":"Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review","volume":"124A","author":"M\u00e9garban\u00e9","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB5|cit5","doi-asserted-by":"crossref","first-page":"S156","DOI":"10.1067\/mjd.2002.112930","article-title":"Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients","volume":"46","author":"Cambiaghi","year":"2002","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB6|cit6","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1111\/j.1468-3083.2005.01318.x","article-title":"Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin","volume":"19","author":"Khandpur","year":"2005","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB7|cit7","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1080\/13816810490514405","article-title":"Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome","volume":"25","author":"Traboulsi","year":"2004","journal-title":"Ophthalmic Genet"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB8|cit8","doi-asserted-by":"crossref","first-page":"21973","DOI":"10.1074\/jbc.274.31.21973","article-title":"Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins","volume":"274","author":"Zelenski","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1111\/j.1365-2133.2010.09890.x-BIB9|cit9","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<365::AID-AJMG12>3.0.CO;2-#","article-title":"Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)","volume":"85","author":"K\u00f6nig","year":"1999","journal-title":"Am J Med Genet"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2010.09890.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2010.09890.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/j.1365-2133.2010.09890.x\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T13:49:18Z","timestamp":1676382558000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/163\/4\/886\/6644155"}},"subtitle":["Correspondence"],"short-title":[],"issued":{"date-parts":[[2010,6,9]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,10]]}},"URL":"https:\/\/doi.org\/10.1111\/j.1365-2133.2010.09890.x","archive":["Portico"],"relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2010,6,9]]}}}