{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T22:07:50Z","timestamp":1767650870484},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T00:00:00Z","timestamp":1411430400000},"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":[[2014,12]]},"abstract":"<jats:sec><jats:label \/><jats:p>Pfeiffer syndrome is an autosomal dominant disorder classically characterized by craniosynostosis, facial dysmorphism and limb anomalies. The majority of cases are caused by mutations in the fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>) gene. A specific, rare mutation p.Pro252Arg, located between the second and third extracellular immunoglobulin\u2010like domain of <jats:italic>FGFR1<\/jats:italic>, is associated with mild clinical signs. We report on a three\u2010generation family with five members having a heterozygous <jats:italic>FGFR1<\/jats:italic> p.Pro252Arg mutation. Phenotypic features within the family showed high variability from the apparently normal skull and limbs to the characteristic brachycephaly and digital anomalies. The typical features of Pfeiffer syndrome appeared only in the third generation allowing us to unveil the syndrome in several further family members in two previous generations. Variable expressivity can complicate the recognition of Pfeiffer syndrome, principally the mild type 1, requiring careful phenotyping and genetic counseling. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36774","type":"journal-article","created":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T20:28:00Z","timestamp":1411504080000},"page":"3176-3179","source":"Crossref","is-referenced-by-count":11,"title":["Variable expressivity of pfeiffer syndrome in a family with <i>FGFR1<\/i> p.Pro252Arg mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Be\u00e1ta","family":"Bessenyei","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariann","family":"Tihanyi","sequence":"additional","affiliation":[{"name":"Genetic Laboratory Hospital of Zala County Zalaegerszeg Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Hartwig","sequence":"additional","affiliation":[{"name":"Genetic Laboratory Hospital of Zala County Zalaegerszeg Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Szakszon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Ol\u00e1h","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Debrecen Debrecen Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.20148"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450305"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3182997df5"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220608.40155.d4"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35842"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/338758"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201558"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-269"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447500"},{"key":"e_1_2_4_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_4_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00012"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.323"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31630"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10125"}],"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.36774","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36774","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:28:03Z","timestamp":1696595283000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,23]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/ajmg.a.36774"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36774","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,23]]}}}