{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:39:03Z","timestamp":1784903943527,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,8]],"date-time":"2006-02-08T00:00:00Z","timestamp":1139356800000},"content-version":"vor","delay-in-days":38,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004391","name":"China Medical University Hospital","doi-asserted-by":"crossref","award":["DMR-94-054"],"award-info":[{"award-number":["DMR-94-054"]}],"id":[{"id":"10.13039\/501100004391","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Crouzon syndrome is an autosomal\u2010dominant disorder that causes premature fusion of the cranial suture. Crouzon, Pfeiffer, and Apert syndromes are caused by mutations in the extracellular, third immunoglobulin\u2010like domain, and adjacent linker regions (exons IIIa and IIIc) of the fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>) gene. We screened 12 Crouzon syndrome patients for mutations in exons IIIa and IIIc of the <jats:italic>FGFR2<\/jats:italic> gene by polymerase chain reaction (PCR) and direct sequencing. Mutations were detected in nine of 12 patients at amino acid positions 278, 281, 289, 342, and 354. More than half of the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel missense Ser354Phe substitution at exon IIIc of the human <jats:italic>FGFR2<\/jats:italic> gene was found. According to our results, sequencing analysis of IgIII domain of the <jats:italic>FGFR2<\/jats:italic> gene can lead to a genetic diagnosis of Crouzon syndrome. J. Clin. Lab. Anal. 20:23\u201326, 2006. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcla.20096","type":"journal-article","created":{"date-parts":[[2006,2,9]],"date-time":"2006-02-09T07:54:01Z","timestamp":1139471641000},"page":"23-26","source":"Crossref","is-referenced-by-count":9,"title":["Mutation analysis of Crouzon syndrome in Taiwanese patients"],"prefix":"10.1002","volume":"20","author":[{"given":"Chin\u2010Ping","family":"Chang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Wan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang\u2010Hai","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng\u2010Chun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuu\u2010Jen","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,8]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Craniosynostosis: diagnosis, evaluation and management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_3_2","volume-title":"The Landon dysmorphology database","author":"Winter RM","year":"1994"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1229"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214198"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-200x.2001.01392.x"},{"key":"e_1_2_1_8_2","first-page":"321","article-title":"Analysis of phenotypic features and FGFR2 mutations in Apert syndrome","volume":"57","author":"Park WJ","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-165"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-269"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-173"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-275"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.6.1077"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2002.97.2.0396"},{"key":"e_1_2_1_15_2","first-page":"12","volume-title":"Clinical syndrome: Crouzon syndrome","author":"Weidemann HR","year":"1995"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/8.3.304"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199911000-00001"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050668"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.20096","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.20096","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.20096","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T17:55:43Z","timestamp":1694195743000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.20096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/jcla.20096"],"URL":"https:\/\/doi.org\/10.1002\/jcla.20096","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}