{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:03:40Z","timestamp":1790935420236,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1996,10,1]],"date-time":"1996-10-01T00:00:00Z","timestamp":844128000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1996,10]]},"DOI":"10.1038\/ng1096-174","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:12:50Z","timestamp":1092859970000},"page":"174-176","source":"Crossref","is-referenced-by-count":246,"title":["Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes"],"prefix":"10.1038","volume":"14","author":[{"given":"Gary A.","family":"Bellus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Gaudenz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lome A.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinny","family":"Szabo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clair A.","family":"Francomano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Muenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng1096174_CR1","first-page":"759","volume-title":"Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders","author":"VA McKusick","year":"1994","unstructured":"McKusick, V.A. (1994) Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. 11th edn. 759\u2013761 (Johns Hopkins University Press, Baltimore, 1994)."},{"key":"BFng1096174_CR2","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1002\/ajmg.1320450305","volume":"45","author":"MM Cohen Jr.","year":"1993","unstructured":"Cohen, M.M. Jr., Pfeiffer syndrome update, clinical subtypes and guidelines for differential diagnosis. Am J. Med. Genet. 45, 300\u2013307 (1993).","journal-title":"Am J. Med. Genet."},{"key":"BFng1096174_CR3","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.1093\/hmg\/3.12.2153","volume":"3","author":"NH Robin","year":"1994","unstructured":"Robin, N.H. et al. Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum Mol. Genet. 3, 2153\u20132158 (1994).","journal-title":"Hum Mol. Genet."},{"key":"BFng1096174_CR4","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1093\/hmg\/4.3.323","volume":"4","author":"U Schell","year":"1995","unstructured":"Schell, U. et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum. Mol. Genet. 4, 323\u2013328 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1096174_CR5","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1038\/ng1194-269","volume":"8","author":"M Muenke","year":"1994","unstructured":"Muenke, M. et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet. 8, 269\u2013274 (1994).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR6","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1038\/ng0295-108","volume":"9","author":"E Lajeunie","year":"1995","unstructured":"Lajeunie, E. et al. FGFR2 mutations in Pfeiffer syndrome. Nature Genet. 9, 108 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR7","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/ng0295-173","volume":"9","author":"P Rutland","year":"1995","unstructured":"Rutland, P. et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 9, 173\u2013176 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR8","first-page":"491","volume":"58","author":"GA Meyers","year":"1996","unstructured":"Meyers, G.A. et al. FGFR2 Exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss and Pfeiffer syndromes: evidence for missense changes, insertions and a deletion due to alternative RNA splicing. Am. J. Hum. Genet. 58, 491\u2013498 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng1096174_CR9","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0295-165","volume":"9","author":"AOM Wilkie","year":"1995","unstructured":"Wilkie, A.O.M. et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9, 165\u2013172 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR10","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1093\/hmg\/4.4.681","volume":"4","author":"GE Hollway","year":"1995","unstructured":"Hollway, G.E., Phillips, H.A., Ades, L.C., Haan, E.A. & Mulley, J.C. Localization of craniosynostosis Adelaide type to 4p16. Hum. Mol. Genet. 4, 681\u2013683 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1096174_CR11","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<177::AID-AJMG31>3.0.CO;2-J","volume":"63","author":"S Von Gernet","year":"1996","unstructured":"Von Gernet, S. et al. Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. Am. J. Med. Genet. 63, 177\u2013184 (1996).","journal-title":"Am. J. Med. Genet."},{"key":"BFng1096174_CR12","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","volume":"78","author":"R Shiang","year":"1994","unstructured":"Shiang, R. et al. Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335\u2013342 (1994).","journal-title":"Cell"},{"key":"BFng1096174_CR13","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/371252a0","volume":"371","author":"F Rousseau","year":"1994","unstructured":"Rousseau, F. et al. Mutations in the gene encoding fibrobiast growth factor receptor-3 in achondroplasia. Nature 371, 252\u2013254 (1994).","journal-title":"Nature"},{"key":"BFng1096174_CR14","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/ng0395-321","volume":"9","author":"PL Tavormina","year":"1995","unstructured":"Tavormina, P.L. et al. Thanatophoric dysplasia (types I & II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet. 9, 321\u2013328 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR15","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ng0795-357","volume":"10","author":"GA Bellus","year":"1995","unstructured":"Bellus, G.A. et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genet. 10, 357\u201359 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR16","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/ng1295-462","volume":"11","author":"GA Meyers","year":"1995","unstructured":"Meyers, G.A. et al. Fibroblastgrowthfactorreceptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genet. 11, 462\u2013464 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR17","doi-asserted-by":"publisher","first-page":"26037","DOI":"10.1074\/jbc.270.44.26037","volume":"44","author":"KM Neilson","year":"1995","unstructured":"Neilson, K.M. & Friesel, R.E. Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. J. Biol. Chem. 44, 26037\u201326040 (1995).","journal-title":"J. Biol. Chem."},{"key":"BFng1096174_CR18","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1002\/j.1460-2075.1996.tb00384.x","volume":"15","author":"MK Webster","year":"1996","unstructured":"Webster, M.K. & Donohue, D.J. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J. 15, 520\u2013527 (1996).","journal-title":"EMBO J."},{"key":"BFng1096174_CR19","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/ng0696-233","volume":"13","author":"MC Naski","year":"1996","unstructured":"Naski, M.C., Wang, Q., Xu, J. & Ornitz, D.M. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nature Genet. 13: 233\u2013237 (1996).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR20","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1038\/ng0496-390","volume":"12","author":"JS Colvin","year":"1996","unstructured":"Colvin, J.S., Bonne, B.A., Harding, G.W., McEwen, D.G. & Ornitz, D.M. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptors. Nature Genet. 12, 390\u2013397 (1996).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR21","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1016\/S0092-8674(00)81069-7","volume":"84","author":"C Deng","year":"1996","unstructured":"Deng, C., Wynshaw-Boris, A., Zhou, F., Kuo, A. & Leder, P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84, 911\u2013921 (1996).","journal-title":"Cell"},{"key":"BFng1096174_CR22","first-page":"1","volume":"60","author":"D Johnson","year":"1993","unstructured":"Johnson, D. & Williams, L.T. Structural and functional diversity in the FGF receptor multigene family. Adv. Cancer Res. 60, 1\u201341 (1993).","journal-title":"Adv. Cancer Res."},{"key":"BFng1096174_CR23","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1016\/0092-8674(94)90520-7","volume":"78","author":"IJ Mason","year":"1994","unstructured":"Mason, I.J. The ins and outs of fibroblast growth factor receptors. Cell 78, 547\u2013552 (1994).","journal-title":"Cell"},{"key":"BFng1096174_CR24","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1006\/dbio.1993.1040","volume":"155","author":"K Peters","year":"1993","unstructured":"Peters, K., Ornitz, D., Werner, S. & Williams, L.T. Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Devl. Biol. 155, 423\u2013430 (1993).","journal-title":"Devl. Biol."},{"key":"BFng1096174_CR25","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1038\/ng0395-232","volume":"9","author":"X Li","year":"1995","unstructured":"Li, X. et al. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nature Genet. 9, 232 (1995).","journal-title":"Nature Genet."},{"key":"BFng1096174_CR26","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1093\/hmg\/4.11.2175","volume":"11","author":"PL Tavormina","year":"1995","unstructured":"Tavormina, P.L. et al. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia. Hum. Mol. Genet. 11, 2175\u20132177 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1096174_CR27","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1093\/hmg\/5.4.509","volume":"5","author":"F Rousseau","year":"1996","unstructured":"Rousseau, F. et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TDI). Hum. Mol. Genet 5, 509\u2013512 (1996).","journal-title":"Hum. Mol. Genet"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1096-174","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1096-174.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1096-174.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:08:06Z","timestamp":1684444086000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1096-174"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,10]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1996,10]]}},"alternative-id":["BFng1096174"],"URL":"https:\/\/doi.org\/10.1038\/ng1096-174","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,10]]}}}