{"id":"https://openalex.org/W1998242575","doi":"https://doi.org/10.1097/scs.0b013e3182646454","title":"FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome","display_name":"FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W1998242575","doi":"https://doi.org/10.1097/scs.0b013e3182646454","mag":"1998242575","pmid":"https://pubmed.ncbi.nlm.nih.gov/23348274"},"language":"en","primary_location":{"id":"doi:10.1097/scs.0b013e3182646454","doi":"https://doi.org/10.1097/scs.0b013e3182646454","is_oa":false,"landing_page_url":"https://doi.org/10.1097/scs.0b013e3182646454","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","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/A5085336350","display_name":"Chayanin Chokdeemboon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I158708052","display_name":"Chulalongkorn University","ror":"https://ror.org/028wp3y58","country_code":"TH","type":"education","lineage":["https://openalex.org/I158708052"]}],"countries":["TH"],"is_corresponding":true,"raw_author_name":"Chayanin Chokdeemboon","raw_affiliation_strings":["Department of Pediatrics, Sor Kor Building 11th floor, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. kanya.su@chula.ac.th","Interdepartment of Biomedical Sciences, Faculty of Graduate School, \u2020Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Sor Kor Building 11th floor, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. kanya.su@chula.ac.th","institution_ids":["https://openalex.org/I158708052"]},{"raw_affiliation_string":"Interdepartment of Biomedical Sciences, Faculty of Graduate School, \u2020Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University","institution_ids":["https://openalex.org/I158708052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045860948","display_name":"Charan Mahatumarat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1297332423","display_name":"Thai Red Cross Society","ror":"https://ror.org/02ggfyw45","country_code":"TH","type":"other","lineage":["https://openalex.org/I1297332423"]},{"id":"https://openalex.org/I2802209374","display_name":"King Chulalongkorn Memorial Hospital","ror":"https://ror.org/05jd2pj53","country_code":"TH","type":"healthcare","lineage":["https://openalex.org/I2802209374"]}],"countries":["TH"],"is_corresponding":false,"raw_author_name":"Charan Mahatumarat","raw_affiliation_strings":["Department of Surgery, Faculty of Medicine, and \u00a7Clinical Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, Faculty of Medicine, and \u00a7Clinical Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand","institution_ids":["https://openalex.org/I1297332423","https://openalex.org/I2802209374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055074939","display_name":"Nond Rojvachiranonda","orcid":"https://orcid.org/0000-0002-5487-3291","observed_orcids":["https://orcid.org/0000-0002-5487-3291"]},"institutions":[{"id":"https://openalex.org/I1297332423","display_name":"Thai Red Cross Society","ror":"https://ror.org/02ggfyw45","country_code":"TH","type":"other","lineage":["https://openalex.org/I1297332423"]},{"id":"https://openalex.org/I2802209374","display_name":"King Chulalongkorn Memorial Hospital","ror":"https://ror.org/05jd2pj53","country_code":"TH","type":"healthcare","lineage":["https://openalex.org/I2802209374"]}],"countries":["TH"],"is_corresponding":false,"raw_author_name":"Nond Rojvachiranonda","raw_affiliation_strings":["Department of Surgery, Faculty of Medicine, and \u00a7Clinical Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, Faculty of Medicine, and \u00a7Clinical Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand","institution_ids":["https://openalex.org/I1297332423","https://openalex.org/I2802209374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000769134","display_name":"Siraprapa Tongkobpetch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Siraprapa Tongkobpetch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011092040","display_name":"Kanya Suphapeetiporn","orcid":"https://orcid.org/0000-0001-5679-7547","observed_orcids":["https://orcid.org/0000-0001-5679-7547"]},"institutions":[{"id":"https://openalex.org/I158708052","display_name":"Chulalongkorn University","ror":"https://ror.org/028wp3y58","country_code":"TH","type":"education","lineage":["https://openalex.org/I158708052"]}],"countries":["TH"],"is_corresponding":true,"raw_author_name":"Kanya Suphapeetiporn","raw_affiliation_strings":["Interdepartment of Biomedical Sciences, Faculty of Graduate School, \u2020Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Interdepartment of Biomedical Sciences, Faculty of Graduate School, \u2020Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University","institution_ids":["https://openalex.org/I158708052"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023898955","display_name":"Vorasuk Shotelersuk","orcid":"https://orcid.org/0000-0002-1856-0589","observed_orcids":["https://orcid.org/0000-0002-1856-0589"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vorasuk Shotelersuk","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5011092040","https://openalex.org/A5085336350"],"corresponding_institution_ids":["https://openalex.org/I158708052"],"apc_list":null,"apc_paid":null,"fwci":2.4264,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.88290372,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"24","issue":"1","first_page":"150","last_page":"152"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9984999895095825,"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/T11310","display_name":"Connective tissue disorders research","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pfeiffer-syndrome","display_name":"Pfeiffer syndrome","score":1.0},{"id":"https://openalex.org/keywords/fgfr1","display_name":"FGFR1","score":0.8270000219345093},{"id":"https://openalex.org/keywords/fgfr2","display_name":"FGFR2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/craniosynostosis","display_name":"craniosynostosis","score":0.9670000076293945},{"id":"https://openalex.org/keywords/midface-hypoplasia","display_name":"midface hypoplasia","score":0.9089999794960022},{"id":"https://openalex.org/keywords/syndactyly","display_name":"syndactyly","score":0.9380000233650208},{"id":"https://openalex.org/keywords/advanced-paternal-age","display_name":"advanced paternal age","score":0.7129999995231628},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6190000176429749},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.7379999756813049},{"id":"https://openalex.org/keywords/thai-patients","display_name":"Thai patients","score":0.7490000128746033}],"concepts":[{"id":"https://openalex.org/C2777202849","wikidata":"https://www.wikidata.org/wiki/Q1360044","display_name":"Syndactyly","level":2,"score":0.8944032788276672},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7616170644760132},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7483801245689392},{"id":"https://openalex.org/C2779302956","wikidata":"https://www.wikidata.org/wiki/Q378183","display_name":"Craniosynostosis","level":2,"score":0.6642277240753174},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6276298761367798},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5685428380966187},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.5000343322753906},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4863007962703705},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22566431760787964},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.17316552996635437},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.146712064743042},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.1334768533706665},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000168","descriptor_name":"Acrocephalosyndactylia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"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":"D007223","descriptor_name":"Infant","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013785","descriptor_name":"Thailand","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051496","descriptor_name":"Receptor, Fibroblast Growth Factor, Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051497","descriptor_name":"Receptor, Fibroblast Growth Factor, Type 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1097/scs.0b013e3182646454","doi":"https://doi.org/10.1097/scs.0b013e3182646454","is_oa":false,"landing_page_url":"https://doi.org/10.1097/scs.0b013e3182646454","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:23348274","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23348274","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":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8199999928474426}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":2,"referenced_works":["https://openalex.org/W10394936","https://openalex.org/W2129487465"],"related_works":["https://openalex.org/W6995786993","https://openalex.org/W10394936","https://openalex.org/W1775633005","https://openalex.org/W2740487187","https://openalex.org/W1987672747","https://openalex.org/W2066740302","https://openalex.org/W2065484288","https://openalex.org/W2100021877","https://openalex.org/W2070185078","https://openalex.org/W2168117739"],"abstract_inverted_index":{"Pfeiffer":[0,191],"syndrome":[1,192],"(PS)":[2],"(MIM":[3],"101600)":[4],"is":[5,16],"one":[6],"of":[7,13,33,43,63,70,98,111,126,166,176],"the":[8,34,64,99,123,129,147,163,173,177,183,194],"most":[9,115,184],"common":[10],"syndromic":[11],"forms":[12],"craniosynostosis.":[14],"It":[15],"characterized":[17],"by":[18],"craniosysnostosis,":[19],"midface":[20],"hypoplasia,":[21],"broad":[22],"and":[23,27,40,55,74,81,89,105,139],"medially":[24],"deviated":[25],"thumbs,":[26],"great":[28],"toes":[29],"with":[30,48,122,158,168],"partial":[31],"syndactyly":[32],"digits.":[35],"Here,":[36],"we":[37],"described":[38],"clinical":[39],"genetic":[41],"features":[42],"12":[44,51],"unrelated":[45],"Thai":[46,130,195],"individuals":[47],"PS.":[49],"All":[50],"patients":[52,88],"were":[53,142],"sporadic,":[54],"advanced":[56],"paternal":[57],"age":[58],"was":[59,83,120,152],"found":[60],"in":[61,85,94,102,128,135,150,154,187,193],"50%":[62],"cases.":[65,113],"Polymerase":[66],"chain":[67],"reaction":[68],"sequencing":[69],"FGFR1":[71,151],"exon":[72],"5":[73],"FGFR2":[75],"exons":[76,103,136],"8,":[77],"10,":[78],"15,":[79],"16,":[80],"17":[82,140],"performed":[84],"all":[86,95],"PS":[87,112,127,156,167],"revealed":[90],"9":[91],"recurrent":[92],"mutations":[93,100,134,189],"patients.":[96],"Most":[97],"clustered":[101],"8":[104],"10":[106],"(9/12)":[107],"accounting":[108],"for":[109],"75%":[110],"The":[114],"frequently":[116],"detected":[117,153],"mutation,":[118],"p.S351C,":[119],"associated":[121],"severe":[124],"form":[125],"population.":[131,196],"Less":[132],"frequent":[133],"16":[137],"(p.K641R)":[138],"(p.G663E)":[141],"also":[143],"identified.":[144],"In":[145],"addition,":[146],"p.P252R":[148],"mutation":[149,174],"1":[155],"patient":[157],"unilateral":[159],"coronal":[160],"craniosynostosis":[161],"expanding":[162],"phenotypic":[164],"spectrum":[165,175],"this":[169],"particular":[170],"mutation.":[171],"Knowing":[172],"responsible":[178],"genes":[179],"could":[180],"lead":[181],"to":[182],"effective":[185],"strategy":[186],"identifying":[188],"causing":[190]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}