{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:34:37Z","timestamp":1791837277288,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,11,14]],"date-time":"2001-11-14T00:00:00Z","timestamp":1005696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pfeiffer syndrome is clinically and genetically heterogeneous. Three clinical subtypes have been delineated based on the severity of acrocephalysyndactyly and associated manifestations. Severe cases are usually sporadic and caused by a number of different mutations in exons IIIa and IIIc of the fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>) gene. Mild cases are either sporadic or familial and are caused by mutations in <jats:italic>FGFR2<\/jats:italic> or <jats:italic>FGFR1<\/jats:italic>, respectively. We report on two individuals with different novel de novo mutations in <jats:italic>FGFR2<\/jats:italic>. The first is a 17\u2010year\u2010old male who has a severe phenotype, within the spectrum of subtype 1 including severe ocular proptosis, elbow ankylosis, visceral anomalies, and normal intelligence. This patient was found to have a novel complex mutation at the 3\u2032 acceptor site of exon IIIc of <jats:italic>FGFR2<\/jats:italic>, denoted as C952\u20103 del10insACC. The other patient, a 2\u2010year\u2010old female, has a mild phenotype, typical of the classic subtype 1 including brachycephaly with coronal synostosis and hypertelorism. She was also found to have a mutation at the 3\u2032 acceptor site (the same splice site) of exon IIIc of <jats:italic>FGFR2<\/jats:italic>, a point mutation designated as 952\u20101G\u2192A. Speculation on the molecular mechanisms that cause severe and mild phenotypes is presented in relation to these two cases. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10125","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:35:44Z","timestamp":1030293344000},"page":"43-47","source":"Crossref","is-referenced-by-count":23,"title":["Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of <i>FGFR2<\/i>"],"prefix":"10.1002","volume":"107","author":[{"given":"Ahmad S.","family":"Teebi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelley","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Chun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,11,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02569.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450305"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<203::AID-AJMG1>3.0.CO;2-S"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050979"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-108"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-269"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1229"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970808)71:2<243::AID-AJMG27>3.0.CO;2-D"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<240::AID-AJMG2>3.0.CO;2-U"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-173"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.323"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10125","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T12:10:40Z","timestamp":1700395840000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11,14]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/ajmg.10125"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10125","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,11,14]]}}}