{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T17:14:30Z","timestamp":1788023670139,"version":"build-2784847793"},"reference-count":74,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,1]]},"abstract":"\n Object.<\/jats:italic>\n The goal of this study was to elucidate the genotype\u2014phenotype relationship in syndromic craniosynostoses by analyzing the mutations of the\n fibroblast growth factor receptor (FGFR)<\/jats:italic>\n gene and its clinical manifestations in patients, particularly those in atypical cases.\n <\/jats:p>\n \n Methods.<\/jats:italic>\n Twenty patients with craniosynostoses unrelated to Apert syndrome were enrolled in this study. The phenotypes indicated the following syndromes: 12 patients with unrelated Crouzon syndrome, including nine sporadic and three familial cases; two with sporadic Pfeiffer syndrome; and one with Antley\u2014Bixler syndrome. The Crouzon phenotype was subdivided into three clinical forms: regular, top, and bottom ones. Two patients who demonstrated craniofacial anomalies and bilateral elbow joint contractures were categorized as having an unspecified craniosynostosis. Three cases of unclassifiable cloverleaf skull malformation were also analyzed.\n <\/jats:p>\n \n Methods.<\/jats:italic>\n Fourteen mutations of the\n FGFR2<\/jats:italic>\n gene were identified in these patients; seven of the 10 cysteine-related mutations were substitutions of codon 342 in the third immunoglobulin-like domain of this gene. The phenotypes of these seven cases were three of regular Crouzon, two of unspecified craniosynostosis, and one each of top Crouzon and unclassifiable cloverleaf skull malformation. In addition, four of the seven patients were found to have the same genotype (Cys342Arg). The phenotypes of these patients, however, were quite variable, ranging from regular Crouzon to unclassifiable cloverleaf skull malformation.\n <\/jats:p>\n \n Conclusions.<\/jats:italic>\n The phenotypes of patients with craniosynostoses unrelated to Apert syndrome proved quite variable, even in cases in which patients demonstrated the same genotype. In view of the phenotypic diversity evident in cases in which the same mutation in the\n FGFR2<\/jats:italic>\n gene is present, it is possible that other disease-modifying genetic factors exist to control the abnormal gain-of-function that accompanies FGFR signaling.\n <\/jats:p>","DOI":"10.3171\/ped.2005.102.1.0023","type":"journal-article","created":{"date-parts":[[2010,8,27]],"date-time":"2010-08-27T06:01:06Z","timestamp":1282888866000},"page":"23-30","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations"],"prefix":"10.3171","volume":"102","author":[{"given":"Susumu","family":"Ito","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken'ichi","family":"Sekido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kanno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironobu","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuo","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1","series-title":"J Craniofacial Surg","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1097\/00001665-199805000-00002","article-title":"The elbow in syndromic craniosynostosis.","volume":"9","author":"Anderson","year":"1998"},{"key":"b2","series-title":"Birth Defects Orig Artic Ser","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.","volume":"11","author":"Antley","year":"1975"},{"key":"b3","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"2026","DOI":"10.1097\/00006534-200112000-00030","article-title":"From genotype to phenotype: the differential expression of FGF, FGFR and TGF\u03b2 genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes.","volume":"108","author":"Britto","year":"2001"},{"key":"b4","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1002\/ajmg.1320450305","article-title":"Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.","volume":"45","author":"Cohen","year":"1993"},{"key":"b5","series-title":"Craniosynostosis. Diagnosis, Evaluation, and Management.","first-page":"21","article-title":"Perspectives on craniosynostosis","year":"1986"},{"key":"b6","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1002\/ajmg.10400","article-title":"Genetic analysis of patients with the Saethre-Chotzen phenotype.","volume":"110","author":"Chun","year":"2002"},{"key":"b7","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1038\/ng0197-42","article-title":"Mutations of the TWIST gene in the Saethre-Chotzen syndrome.","volume":"15","author":"el Ghouzzi","year":"1997"},{"key":"b8","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1093\/hmg\/4.8.1387","article-title":"Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.","volume":"4","author":"Gorry","year":"1995"},{"key":"b9","series-title":"Med Monatsschr","first-page":"439","article-title":"[The clover-leaf skull syndrome.]","volume":"14","author":"Holtermueller","year":"1960"},{"key":"b10","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng1194-275","article-title":"Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.","volume":"8","author":"Jabs","year":"1994"},{"key":"b11","series-title":"Cell","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/0092-8674(93)90379-5","article-title":"A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.","volume":"75","author":"Jabs","year":"1993"},{"key":"b12","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1016\/S0022-3476(76)81050-5","article-title":"Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.","volume":"88","author":"Jackson","year":"1976"},{"key":"b13","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"443","DOI":"10.3171\/jns.1999.90.3.0443","article-title":"Clinical variability in patients with Apert's syndrome.","volume":"90","author":"Lajeunie","year":"1999"},{"key":"b14","series-title":"Am J Hum Genet","first-page":"491","article-title":"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.","volume":"58","author":"Meyers","year":"1996"},{"key":"b15","series-title":"Lancet","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1016\/S0140-6736(96)09082-4","article-title":"Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.","volume":"349","author":"Moloney","year":"1997"},{"key":"b16","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1038\/ng1194-269","article-title":"A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.","volume":"8","author":"Muenke","year":"1994"},{"key":"b17","series-title":"J Biol Chem","doi-asserted-by":"publisher","first-page":"26037","DOI":"10.1074\/jbc.270.44.26037","article-title":"Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon Syndrome.","volume":"270","author":"Neilson","year":"1995"},{"key":"b18","series-title":"Nucleic Acids Res","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","article-title":"Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).","volume":"17","author":"Newton","year":"1989"},{"key":"b19","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1093\/hmg\/4.6.1077","article-title":"Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.","volume":"4","author":"Oldridge","year":"1995"},{"key":"b20","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1093\/hmg\/4.7.1229","article-title":"Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.","volume":"4","author":"Park","year":"1995"},{"key":"b21","series-title":"Am J Hum Genet","first-page":"321","article-title":"Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.","volume":"57","author":"Park","year":"1995"},{"key":"b22","series-title":"Am J Hum Genet","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1086\/301855","article-title":"Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.","volume":"62","author":"Paznekas","year":"1998"},{"key":"b23","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1038\/ng0896-492","article-title":"Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.","volume":"13","author":"Przylepa","year":"1996"},{"key":"b24","series-title":"Eur J Hum Genet","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1159\/000472215","article-title":"Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.","volume":"4","author":"Pulleyn","year":"1996"},{"key":"b25","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0994-98","article-title":"Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.","volume":"8","author":"Reardon","year":"1994"},{"key":"b26","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"631","DOI":"10.3171\/jns.2000.92.4.0631","article-title":"Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence and surgical outcome.","volume":"92","author":"Renier","year":"2000"},{"key":"b27","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1093\/hmg\/5.4.509","article-title":"Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).","volume":"5","author":"Rousseau","year":"1996"},{"key":"b28","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/ng0295-173","article-title":"Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.","volume":"9","author":"Rutland","year":"1995"},{"key":"b29","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1136\/jmg.18.1.73","article-title":"Variable expression in Pfeiffer syndrome.","volume":"18","author":"Sanchex","year":"1981"},{"key":"b30","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1093\/hmg\/4.3.323","article-title":"Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.","volume":"4","author":"Schell","year":"1995"},{"key":"b31","series-title":"Am J Hum Genet","first-page":"923","article-title":"Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.","volume":"58","author":"Slaney","year":"1996"},{"key":"b32","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<81::AID-AJMG19>3.0.CO;2-M","article-title":"FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.","volume":"66","author":"Steinberger","year":"1996"},{"key":"b33","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/ng0395-321","article-title":"Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.","volume":"9","author":"Tavormina","year":"1995"},{"key":"b34","series-title":"Craniosynostosis. Diagnosis, Evaluation, and Management.","first-page":"321","article-title":"Craniofacial surgery in syndromic craniosynostosis","author":"Tessier","year":"1986"},{"key":"b35","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0295-165","article-title":"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.","volume":"9","author":"Wilkie","year":"1995"},{"key":"b36","series-title":"Nature","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1038\/nature01545","article-title":"The BMP antagonist noggin regulates cranial suture fusion.","volume":"422","author":"Warren","year":"2003"},{"key":"b37","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1097\/00006534-200102000-00034","article-title":"New development in cranial suture research.","volume":"107","author":"Warren","year":"2001"},{"key":"b1","series-title":"J Craniofacial Surg","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1097\/00001665-199805000-00002","article-title":"The elbow in syndromic craniosynostosis.","volume":"9","author":"Anderson","year":"1998"},{"key":"b2","series-title":"Birth Defects Orig Artic Ser","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.","volume":"11","author":"Antley","year":"1975"},{"key":"b3","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"2026","DOI":"10.1097\/00006534-200112000-00030","article-title":"From genotype to phenotype: the differential expression of FGF, FGFR and TGF\u03b2 genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes.","volume":"108","author":"Britto","year":"2001"},{"key":"b4","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1002\/ajmg.1320450305","article-title":"Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.","volume":"45","author":"Cohen","year":"1993"},{"key":"b5","series-title":"Craniosynostosis. Diagnosis, Evaluation, and Management.","first-page":"21","article-title":"Perspectives on craniosynostosis","year":"1986"},{"key":"b6","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1002\/ajmg.10400","article-title":"Genetic analysis of patients with the Saethre-Chotzen phenotype.","volume":"110","author":"Chun","year":"2002"},{"key":"b7","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1038\/ng0197-42","article-title":"Mutations of the TWIST gene in the Saethre-Chotzen syndrome.","volume":"15","author":"el Ghouzzi","year":"1997"},{"key":"b8","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1093\/hmg\/4.8.1387","article-title":"Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.","volume":"4","author":"Gorry","year":"1995"},{"key":"b9","series-title":"Med Monatsschr","first-page":"439","article-title":"[The clover-leaf skull syndrome.]","volume":"14","author":"Holtermueller","year":"1960"},{"key":"b10","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng1194-275","article-title":"Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.","volume":"8","author":"Jabs","year":"1994"},{"key":"b11","series-title":"Cell","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/0092-8674(93)90379-5","article-title":"A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.","volume":"75","author":"Jabs","year":"1993"},{"key":"b12","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1016\/S0022-3476(76)81050-5","article-title":"Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.","volume":"88","author":"Jackson","year":"1976"},{"key":"b13","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"443","DOI":"10.3171\/jns.1999.90.3.0443","article-title":"Clinical variability in patients with Apert's syndrome.","volume":"90","author":"Lajeunie","year":"1999"},{"key":"b14","series-title":"Am J Hum Genet","first-page":"491","article-title":"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.","volume":"58","author":"Meyers","year":"1996"},{"key":"b15","series-title":"Lancet","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1016\/S0140-6736(96)09082-4","article-title":"Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.","volume":"349","author":"Moloney","year":"1997"},{"key":"b16","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1038\/ng1194-269","article-title":"A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.","volume":"8","author":"Muenke","year":"1994"},{"key":"b17","series-title":"J Biol Chem","doi-asserted-by":"publisher","first-page":"26037","DOI":"10.1074\/jbc.270.44.26037","article-title":"Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon Syndrome.","volume":"270","author":"Neilson","year":"1995"},{"key":"b18","series-title":"Nucleic Acids Res","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","article-title":"Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).","volume":"17","author":"Newton","year":"1989"},{"key":"b19","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1093\/hmg\/4.6.1077","article-title":"Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.","volume":"4","author":"Oldridge","year":"1995"},{"key":"b20","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1093\/hmg\/4.7.1229","article-title":"Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.","volume":"4","author":"Park","year":"1995"},{"key":"b21","series-title":"Am J Hum Genet","first-page":"321","article-title":"Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.","volume":"57","author":"Park","year":"1995"},{"key":"b22","series-title":"Am J Hum Genet","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1086\/301855","article-title":"Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.","volume":"62","author":"Paznekas","year":"1998"},{"key":"b23","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1038\/ng0896-492","article-title":"Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.","volume":"13","author":"Przylepa","year":"1996"},{"key":"b24","series-title":"Eur J Hum Genet","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1159\/000472215","article-title":"Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.","volume":"4","author":"Pulleyn","year":"1996"},{"key":"b25","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0994-98","article-title":"Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.","volume":"8","author":"Reardon","year":"1994"},{"key":"b26","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"631","DOI":"10.3171\/jns.2000.92.4.0631","article-title":"Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence and surgical outcome.","volume":"92","author":"Renier","year":"2000"},{"key":"b27","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1093\/hmg\/5.4.509","article-title":"Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).","volume":"5","author":"Rousseau","year":"1996"},{"key":"b28","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/ng0295-173","article-title":"Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.","volume":"9","author":"Rutland","year":"1995"},{"key":"b29","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1136\/jmg.18.1.73","article-title":"Variable expression in Pfeiffer syndrome.","volume":"18","author":"Sanchex","year":"1981"},{"key":"b30","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1093\/hmg\/4.3.323","article-title":"Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.","volume":"4","author":"Schell","year":"1995"},{"key":"b31","series-title":"Am J Hum Genet","first-page":"923","article-title":"Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.","volume":"58","author":"Slaney","year":"1996"},{"key":"b32","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<81::AID-AJMG19>3.0.CO;2-M","article-title":"FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.","volume":"66","author":"Steinberger","year":"1996"},{"key":"b33","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/ng0395-321","article-title":"Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.","volume":"9","author":"Tavormina","year":"1995"},{"key":"b34","series-title":"Craniosynostosis. Diagnosis, Evaluation, and Management.","first-page":"321","article-title":"Craniofacial surgery in syndromic craniosynostosis","author":"Tessier","year":"1986"},{"key":"b35","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0295-165","article-title":"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.","volume":"9","author":"Wilkie","year":"1995"},{"key":"b36","series-title":"Nature","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1038\/nature01545","article-title":"The BMP antagonist noggin regulates cranial suture fusion.","volume":"422","author":"Warren","year":"2003"},{"key":"b37","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1097\/00006534-200102000-00034","article-title":"New development in cranial suture research.","volume":"107","author":"Warren","year":"2001"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/102\/1\/article-p23.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/102\/1\/article-p23.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/102\/1\/article-p23.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:18:49Z","timestamp":1782209929000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/102\/1\/article-p23.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":74,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.3171\/ped.2005.102.1.0023","relation":{},"ISSN":["0022-3085"],"issn-type":[{"value":"0022-3085","type":"print"}],"subject":[],"published":{"date-parts":[[2005,1]]}}}