{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:46:04Z","timestamp":1700156764275},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,3,23]],"date-time":"2004-03-23T00:00:00Z","timestamp":1080000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Treacher Collins syndrome (TCS) is caused by mutations in <jats:italic>TCOF1<\/jats:italic> of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C\u2009\u2192\u2009T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30038","type":"journal-article","created":{"date-parts":[[2004,4,15]],"date-time":"2004-04-15T19:04:47Z","timestamp":1082055887000},"page":"173-175","source":"Crossref","is-referenced-by-count":9,"title":["Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in <i>TCOF1<\/i>"],"prefix":"10.1002","volume":"128A","author":[{"given":"Katsumi","family":"Horiuchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Ariga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotaka","family":"Fujioka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiro","family":"Kawashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhei","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroharu","family":"Igawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukio","family":"Sakiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuneki","family":"Sugihara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,3,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"515","article-title":"The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature\u2010termination codon","volume":"60","author":"Edwards SJ","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ortho\/29.4.293"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390126"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.493"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1148\/74.2.225"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0296-130","article-title":"Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome","volume":"12","author":"The Treacher Collins Collaborative Group","year":"1996","journal-title":"Nat Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3110"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30038","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:16:06Z","timestamp":1700154966000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,23]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,7,15]]}},"alternative-id":["10.1002\/ajmg.a.30038"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30038","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,23]]}}}