{"id":"https://openalex.org/W2010248291","doi":"https://doi.org/10.1097/00001665-199805000-00004","title":"Pfeiffer\u02bcs Syndrome Resulting From an S351C Mutation in the Fibroblast Growth Factor Receptor-2 Gene","display_name":"Pfeiffer\u02bcs Syndrome Resulting From an S351C Mutation in the Fibroblast Growth Factor Receptor-2 Gene","publication_year":1998,"publication_date":"1998-05-01","ids":{"openalex":"https://openalex.org/W2010248291","doi":"https://doi.org/10.1097/00001665-199805000-00004","mag":"2010248291","pmid":"https://pubmed.ncbi.nlm.nih.gov/9693549"},"language":"en","primary_location":{"id":"doi:10.1097/00001665-199805000-00004","doi":"https://doi.org/10.1097/00001665-199805000-00004","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00001665-199805000-00004","pdf_url":null,"source":{"id":"https://openalex.org/S36642063","display_name":"Journal of Craniofacial Surgery","issn_l":"1049-2275","issn":["1049-2275","1536-3732"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Craniofacial Surgery","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050520936","display_name":"Irene M.J. Mathijssen","orcid":"https://orcid.org/0000-0002-1675-9922","observed_orcids":["https://orcid.org/0000-0002-1675-9922"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"I. M. J. Mathijssen","raw_affiliation_strings":["Department of Plastic and Reconstructive Surgery, University Hospital Rotterdam, The Netherlands","Rotterdam, The Netherlands","the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Plastic and Reconstructive Surgery, University Hospital Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Rotterdam, The Netherlands","institution_ids":[]},{"raw_affiliation_string":"the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686","https://openalex.org/I913958620"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109011997","display_name":"J. M. Vaandrager","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J. M. Vaandrager","raw_affiliation_strings":["Rotterdam, The Netherlands","the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rotterdam, The Netherlands","institution_ids":[]},{"raw_affiliation_string":"the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686","https://openalex.org/I913958620"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107840648","display_name":"A. Jeannette M. Hoogeboom","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"A. J. M. Hoogeboom","raw_affiliation_strings":["Rotterdam, The Netherlands","the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rotterdam, The Netherlands","institution_ids":[]},{"raw_affiliation_string":"the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686","https://openalex.org/I913958620"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041703934","display_name":"Arjenne L.W. Hesseling-Janssen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"A. L. W. Hesseling-Janssen","raw_affiliation_strings":["Rotterdam, The Netherlands","the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rotterdam, The Netherlands","institution_ids":[]},{"raw_affiliation_string":"the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686","https://openalex.org/I913958620"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110040720","display_name":"A. M. W. van den Ouweland","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"A. M. W. van den Ouweland","raw_affiliation_strings":["Rotterdam, The Netherlands","the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rotterdam, The Netherlands","institution_ids":[]},{"raw_affiliation_string":"the Departments of Plastic and Reconstructive Surgery, University Hospital Rotterdam, and \u2020Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686","https://openalex.org/I913958620"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.1821,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.86124754,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"9","issue":"3","first_page":"207","last_page":"209"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pfeiffer-syndrome","display_name":"Pfeiffer syndrome","score":0.8799999952316284},{"id":"https://openalex.org/keywords/fgfr2","display_name":"FGFR2","score":0.6790000200271606},{"id":"https://openalex.org/keywords/craniosynostosis","display_name":"craniosynostosis","score":0.8569999933242798},{"id":"https://openalex.org/keywords/fgfr-mutations","display_name":"FGFR mutations","score":0.6359999775886536},{"id":"https://openalex.org/keywords/sporadic-cases","display_name":"sporadic cases","score":0.6859999895095825},{"id":"https://openalex.org/keywords/crouzon-syndrome","display_name":"Crouzon syndrome","score":0.9629999995231628},{"id":"https://openalex.org/keywords/apert-syndrome","display_name":"Apert syndrome","score":0.7519999742507935},{"id":"https://openalex.org/keywords/fgfr1","display_name":"FGFR1","score":0.6579999923706055},{"id":"https://openalex.org/keywords/fgfr3","display_name":"FGFR3","score":1.0}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8790595531463623},{"id":"https://openalex.org/C82867764","wikidata":"https://www.wikidata.org/wiki/Q24780051","display_name":"Fibroblast growth factor receptor","level":4,"score":0.6496428847312927},{"id":"https://openalex.org/C74373430","wikidata":"https://www.wikidata.org/wiki/Q24727126","display_name":"Fibroblast growth factor","level":3,"score":0.545929491519928},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5379491448402405},{"id":"https://openalex.org/C50044444","wikidata":"https://www.wikidata.org/wiki/Q14911644","display_name":"Fibroblast growth factor receptor 2","level":4,"score":0.5251664519309998},{"id":"https://openalex.org/C49418065","wikidata":"https://www.wikidata.org/wiki/Q14914258","display_name":"Fibroblast growth factor receptor 1","level":4,"score":0.5068688988685608},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.49580249190330505},{"id":"https://openalex.org/C66400584","wikidata":"https://www.wikidata.org/wiki/Q5446458","display_name":"Fibroblast growth factor receptor 4","level":5,"score":0.4923039674758911},{"id":"https://openalex.org/C147708747","wikidata":"https://www.wikidata.org/wiki/Q14914358","display_name":"Fibroblast growth factor receptor 3","level":4,"score":0.48951733112335205},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4839244484901428},{"id":"https://openalex.org/C114276007","wikidata":"https://www.wikidata.org/wiki/Q14897899","display_name":"Fibroblast growth factor 23","level":4,"score":0.4405851364135742},{"id":"https://openalex.org/C146759223","wikidata":"https://www.wikidata.org/wiki/Q17927902","display_name":"FGF10","level":4,"score":0.43495509028434753},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.42305225133895874},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.40522828698158264},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.17750170826911926},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.054336369037628174},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.0},{"id":"https://openalex.org/C2781208988","wikidata":"https://www.wikidata.org/wiki/Q202476","display_name":"Parathyroid hormone","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000168","descriptor_name":"Acrocephalosyndactylia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012694","descriptor_name":"Serine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017468","descriptor_name":"Receptors, Fibroblast Growth Factor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020794","descriptor_name":"Receptor Protein-Tyrosine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051497","descriptor_name":"Receptor, Fibroblast Growth Factor, Type 2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1097/00001665-199805000-00004","doi":"https://doi.org/10.1097/00001665-199805000-00004","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00001665-199805000-00004","pdf_url":null,"source":{"id":"https://openalex.org/S36642063","display_name":"Journal of Craniofacial Surgery","issn_l":"1049-2275","issn":["1049-2275","1536-3732"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Craniofacial Surgery","raw_type":"journal-article"},{"id":"pmid:9693549","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9693549","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of craniofacial surgery","raw_type":"Case Reports"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/276755a8-ea82-4106-8cdd-e19917e88922","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/276755a8-ea82-4106-8cdd-e19917e88922","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mathijssen, I, Vaandrager, JM, Hoogeboom, AJM, Hesseling, A & van den Ouweland, A 1998, 'Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene', Journal of Craniofacial Surgery, vol. 9, pp. 207-209.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/276755a8-ea82-4106-8cdd-e19917e88922","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/276755a8-ea82-4106-8cdd-e19917e88922","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Craniofacial Surgery, 9, 207 - 209. Lippincott Williams & Wilkins","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2087685511","https://openalex.org/W4245466660","https://openalex.org/W2089821064","https://openalex.org/W2070185078","https://openalex.org/W1996046324","https://openalex.org/W1775633005","https://openalex.org/W2026066659","https://openalex.org/W2334959052","https://openalex.org/W1985857958","https://openalex.org/W2153429518"],"abstract_inverted_index":{"For":[0],"four":[1],"of":[2,52,60],"the":[3,14,28,38,66],"most":[4],"well-known":[5],"craniosynostosis":[6],"syndromes--Apert's,":[7],"Crouzon's,":[8],"Pfeiffer's,":[9],"and":[10,31,40,90],"Jackson-Weiss'":[11],"syndromes--mutations":[12],"in":[13,27,37,65,78],"fibroblast":[15],"growth":[16],"factor":[17],"receptors":[18],"(FGFRs)":[19],"have":[20],"been":[21,76],"described.":[22],"These":[23],"substitutions":[24],"arise":[25],"mainly":[26],"FGFR-2":[29,67],"gene":[30,68],"to":[32],"a":[33,45],"much":[34],"lesser":[35],"degree":[36],"FGFR-1":[39],"FGFR-3":[41],"genes.":[42],"We":[43],"present":[44],"patient":[46,81],"with":[47],"an":[48],"apparently":[49],"sporadic":[50],"type":[51],"Pfeiffer's":[53,91],"syndrome,":[54],"exhibiting":[55],"nearly":[56],"all":[57],"associated":[58],"features":[59],"this":[61],"syndrome.":[62],"A":[63],"mutation":[64,74],"was":[69],"found,":[70],"namely":[71],"serine351-cysteine.":[72],"This":[73],"has":[75],"reported":[77],"only":[79],"one":[80],"so":[82],"far,":[83],"whose":[84],"phenotype":[85],"could":[86],"match":[87],"both":[88],"Crouzon's":[89],"syndromes.":[92]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}