{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:50:56Z","timestamp":1787237456926,"version":"build-2736575974"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2008,12,6]],"date-time":"2008-12-06T00:00:00Z","timestamp":1228521600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1007\/s00431-008-0884-x","type":"journal-article","created":{"date-parts":[[2008,12,5]],"date-time":"2008-12-05T09:02:41Z","timestamp":1228467761000},"page":"1135-1139","source":"Crossref","is-referenced-by-count":10,"title":["Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome"],"prefix":"10.1007","volume":"168","author":[{"given":"Maria","family":"Piccione","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Antona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Niceta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Fabiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Martines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Corsello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,12,6]]},"reference":[{"key":"884_CR1","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1097\/01.SCS.0000157078.53871.11","volume":"16","author":"F Carinci","year":"2005","unstructured":"Carinci F, Pezzetti F, Becchetti E et al (2005) Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg 16:361\u2013368","journal-title":"J Craniofac Surg"},{"key":"884_CR2","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/ajmg.1320450305","volume":"45","author":"MM Cohen","year":"1993","unstructured":"Cohen MM (1993) Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300\u2013307","journal-title":"Am J Med Genet"},{"issue":"2","key":"884_CR3","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/j.1601-6343.2007.00389.x","volume":"10","author":"ML Cunningham","year":"2007","unstructured":"Cunningham ML, Seto ML, Ratisoontorn C et al (2007) Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res 10(2):67\u201381","journal-title":"Orthod Craniofac Res"},{"issue":"8","key":"884_CR4","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1634\/stemcells.2004-0303","volume":"23","author":"P Dvorak","year":"2005","unstructured":"Dvorak P, Dvorakova D, Koskova S et al (2005) Expression and potential role of fibroblast growth factor 2 and its receptors in human embryonic stem cells. Stem Cells 23(8):1200\u20131211","journal-title":"Stem Cells"},{"issue":"2","key":"884_CR5","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1597\/04-155.1","volume":"43","author":"EC Freitas","year":"2006","unstructured":"Freitas EC, Nascimento SR, de Mello MP et al (2006) Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. Cleft Palate Craniofac J 43(2):142\u2013147","journal-title":"Cleft Palate Craniofac J"},{"issue":"22","key":"884_CR6","doi-asserted-by":"crossref","first-page":"5471","DOI":"10.1242\/dev.00795","volume":"130","author":"M Gorivodsky","year":"2003","unstructured":"Gorivodsky M, Lonai P (2003) Novel roles of Fgfr2 in AER differentiation and positioning of the dorsoventral limb interface. Development 130(22):5471\u20135479","journal-title":"Development"},{"key":"884_CR7","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1016\/S0022-3476(98)70366-X","volume":"132","author":"KW Gripp","year":"1998","unstructured":"Gripp KW, McDonald-McGinn DM, Gaudenz K et al (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. J Pediatr 132:714\u2013716","journal-title":"J Pediatr"},{"key":"884_CR8","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1093\/hmg\/ddh235","volume":"13","author":"OA Ibrahimi","year":"2004","unstructured":"Ibrahimi OA, Zhang F, Eliseenkova AV et al (2004) Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet 13:2313\u20132324","journal-title":"Hum Mol Genet"},{"issue":"3\u20134","key":"884_CR9","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1159\/000048802","volume":"94","author":"RG Ingersoll","year":"2001","unstructured":"Ingersoll RG, Paznekas WA, Tran AK et al (2001) Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenet Cell Genet 94(3\u20134):121\u2013126","journal-title":"Cytogenet Cell Genet"},{"issue":"1 Suppl","key":"884_CR10","first-page":"23","volume":"102","author":"S Ito","year":"2005","unstructured":"Ito S, Sekido K, Kanno H et al (2005) Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations. J Neurosurg 102(1 Suppl):23\u201330","journal-title":"J Neurosurg"},{"key":"884_CR11","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/S0022-3476(76)81050-5","volume":"88","author":"CE Jackson","year":"1976","unstructured":"Jackson CE, Weiss L, Reynolds WA et al (1976) Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr 88:963\u2013968","journal-title":"J Pediatr"},{"key":"884_CR12","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/sj.ejhg.5201558","volume":"14","author":"E Lajeunie","year":"2006","unstructured":"Lajeunie E, Heuertz S, Ghouzzi VE et al (2006) Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 14:289\u2013298","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"884_CR13","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/4.6.1077","volume":"4","author":"M Oldridge","year":"1995","unstructured":"Oldridge M, Wilkie AO, Slaney SF et al (1995) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 4(6):1077\u20131082","journal-title":"Hum Mol Genet"},{"key":"884_CR14","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1007\/s00381-007-0474-7","volume":"23","author":"C Raybaud","year":"2007","unstructured":"Raybaud C, Di Rocco C (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23:1379\u20131388","journal-title":"Childs Nerv Syst"},{"key":"884_CR15","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/hmg\/4.3.323","volume":"4","author":"U Schell","year":"1995","unstructured":"Schell U, Hehr A, Feldman GJ et al (1995) Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323\u2013328","journal-title":"Hum Mol Genet"},{"issue":"9","key":"884_CR16","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1038\/ng2096","volume":"39","author":"V Shukla","year":"2007","unstructured":"Shukla V, Coumoul X, Wang RH et al (2007) RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nature Genetics 39(9):1145\u20131150","journal-title":"Nature Genetics"},{"key":"884_CR17","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/0470846658.ch9","volume":"232","author":"AO Wilkie","year":"2001","unstructured":"Wilkie AO, Oldridge M, Tang Z et al (2001) Craniosynostosis and related limb anomalies. Novartis Found Symp 232:122\u2013133","journal-title":"Novartis Found Symp"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-008-0884-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-008-0884-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-008-0884-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T15:21:50Z","timestamp":1709565710000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-008-0884-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,6]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["884"],"URL":"https:\/\/doi.org\/10.1007\/s00431-008-0884-x","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,6]]}}}