{"id":"https://openalex.org/W2896475469","doi":"https://doi.org/10.14734/pn.2018.29.3.128","title":"Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly","display_name":"Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly","publication_year":2018,"publication_date":"2018-01-01","ids":{"openalex":"https://openalex.org/W2896475469","doi":"https://doi.org/10.14734/pn.2018.29.3.128","mag":"2896475469"},"language":"en","primary_location":{"id":"doi:10.14734/pn.2018.29.3.128","doi":"https://doi.org/10.14734/pn.2018.29.3.128","is_oa":true,"landing_page_url":"https://doi.org/10.14734/pn.2018.29.3.128","pdf_url":null,"source":{"id":"https://openalex.org/S4210182185","display_name":"Perinatology","issn_l":"2508-4887","issn":["2508-4887","2508-4895"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","kci-registered"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Perinatology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.14734/pn.2018.29.3.128","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029834392","display_name":"Jinsun Lee","orcid":"https://orcid.org/0000-0002-9345-724X","observed_orcids":["https://orcid.org/0000-0002-9345-724X"]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jin Sun Lee","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102417587","display_name":"Jin Hyuk Choi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jin Hyuk Choi","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101884577","display_name":"Yong Wook Lee","orcid":"https://orcid.org/0000-0003-1985-309X","observed_orcids":["https://orcid.org/0000-0003-1985-309X"]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Yong Wook Lee","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008316273","display_name":"Mi Hyeon Gang","orcid":"https://orcid.org/0000-0003-2074-2952","observed_orcids":["https://orcid.org/0000-0003-2074-2952"]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Mi Hyeon Gang","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070729199","display_name":"Sun Kyoung You","orcid":"https://orcid.org/0000-0002-1026-5809","observed_orcids":["https://orcid.org/0000-0002-1026-5809"]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Sun Kyoung You","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048524078","display_name":"Hyun Dea Shin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hyun Dea Shin","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079080277","display_name":"Mea-young Chang","orcid":"https://orcid.org/0000-0001-5368-3296","observed_orcids":["https://orcid.org/0000-0001-5368-3296"]},"institutions":[{"id":"https://openalex.org/I196345858","display_name":"Chungnam National University","ror":"https://ror.org/0227as991","country_code":"KR","type":"education","lineage":["https://openalex.org/I196345858"]},{"id":"https://openalex.org/I4210143602","display_name":"Chungnam National University Hospital","ror":"https://ror.org/04353mq94","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Mea-young Chang","raw_affiliation_strings":["Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea","institution_ids":["https://openalex.org/I196345858","https://openalex.org/I4210143602"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":200000,"currency":"KRW","value_usd":153},"apc_paid":{"value":200000,"currency":"KRW","value_usd":153},"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.12074671,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"29","issue":"3","first_page":"128","last_page":"128"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9945999979972839,"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":0.9945999979972839,"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":0.00139999995008111,"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":0.00139999995008111,"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/fgfr2-mutations","display_name":"FGFR2 mutations","score":0.8759999871253967},{"id":"https://openalex.org/keywords/fgfr2","display_name":"FGFR2","score":0.8809999823570251},{"id":"https://openalex.org/keywords/cloverleaf-skull","display_name":"cloverleaf skull","score":0.7850000262260437},{"id":"https://openalex.org/keywords/craniosynostosis","display_name":"craniosynostosis","score":0.9950000047683716},{"id":"https://openalex.org/keywords/vertebral-anomalies","display_name":"vertebral anomalies","score":0.7210000157356262},{"id":"https://openalex.org/keywords/ocular-proptosis","display_name":"ocular proptosis","score":0.9390000104904175},{"id":"https://openalex.org/keywords/newborns","display_name":"neonates","score":0.6399999856948853},{"id":"https://openalex.org/keywords/molecular-genetic-diagnosis","display_name":"molecular genetic diagnosis","score":0.7599999904632568}],"concepts":[{"id":"https://openalex.org/C2779302956","wikidata":"https://www.wikidata.org/wiki/Q378183","display_name":"Craniosynostosis","level":2,"score":0.8072335720062256},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5288625359535217},{"id":"https://openalex.org/C2780639360","wikidata":"https://www.wikidata.org/wiki/Q779250","display_name":"Crouzon syndrome","level":3,"score":0.4928591251373291},{"id":"https://openalex.org/C2779300802","wikidata":"https://www.wikidata.org/wiki/Q13147","display_name":"Skull","level":2,"score":0.4905025362968445},{"id":"https://openalex.org/C147708747","wikidata":"https://www.wikidata.org/wiki/Q14914358","display_name":"Fibroblast growth factor receptor 3","level":4,"score":0.4553442895412445},{"id":"https://openalex.org/C50044444","wikidata":"https://www.wikidata.org/wiki/Q14911644","display_name":"Fibroblast growth factor receptor 2","level":4,"score":0.4515185058116913},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.43497946858406067},{"id":"https://openalex.org/C82867764","wikidata":"https://www.wikidata.org/wiki/Q24780051","display_name":"Fibroblast growth factor receptor","level":4,"score":0.41772907972335815},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3957921862602234},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3792995810508728},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3600861430168152},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36006635427474976},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.34678149223327637},{"id":"https://openalex.org/C74373430","wikidata":"https://www.wikidata.org/wiki/Q24727126","display_name":"Fibroblast growth factor","level":3,"score":0.25498679280281067},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.2325960099697113},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.061581313610076904}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.14734/pn.2018.29.3.128","doi":"https://doi.org/10.14734/pn.2018.29.3.128","is_oa":true,"landing_page_url":"https://doi.org/10.14734/pn.2018.29.3.128","pdf_url":null,"source":{"id":"https://openalex.org/S4210182185","display_name":"Perinatology","issn_l":"2508-4887","issn":["2508-4887","2508-4895"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","kci-registered"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Perinatology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.14734/pn.2018.29.3.128","doi":"https://doi.org/10.14734/pn.2018.29.3.128","is_oa":true,"landing_page_url":"https://doi.org/10.14734/pn.2018.29.3.128","pdf_url":null,"source":{"id":"https://openalex.org/S4210182185","display_name":"Perinatology","issn_l":"2508-4887","issn":["2508-4887","2508-4895"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","kci-registered"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Perinatology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8371999859809875,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1832564388","https://openalex.org/W1987672747","https://openalex.org/W1987908896","https://openalex.org/W2008929019","https://openalex.org/W2016172910","https://openalex.org/W2021660277","https://openalex.org/W2026066659","https://openalex.org/W2053324785","https://openalex.org/W2072406831","https://openalex.org/W2076945040","https://openalex.org/W2118594436","https://openalex.org/W2129487465","https://openalex.org/W2143524015","https://openalex.org/W2144083195","https://openalex.org/W2167445679","https://openalex.org/W2296599805","https://openalex.org/W3192063994"],"related_works":["https://openalex.org/W2167445679","https://openalex.org/W2178513362","https://openalex.org/W4254014746","https://openalex.org/W3047802235","https://openalex.org/W2911469898","https://openalex.org/W2055827116","https://openalex.org/W2076945040","https://openalex.org/W3192063994","https://openalex.org/W2791816297","https://openalex.org/W2004299593"],"abstract_inverted_index":{"Pfeiffer":[0,37,58,85],"syndrome":[1,38,86],"is":[2],"a":[3,47],"rare":[4,56],"genetic":[5,61,76],"disorder":[6],"characterized":[7],"by":[8],"premature":[9],"fusion":[10],"of":[11,18,84],"certain":[12],"skull":[13,32],"bones":[14],"(craniosynostosis)":[15],"and":[16,21,29],"anomalies":[17],"the":[19,51],"face":[20],"extremities.":[22],"A":[23],"female":[24],"newborn":[25],"showing":[26],"ocular":[27],"proptosis":[28],"typical":[30],"cloverleaf":[31],"was":[33],"considered":[34,80],"as":[35],"having":[36],"type":[39,83],"2.":[40],"She":[41],"also":[42],"had":[43],"coccygeal":[44],"anomaly":[45],"resembling":[46],"human":[48],"tail.":[49],"However,":[50],"accompanying":[52],"vertebral":[53],"malformations":[54],"are":[55],"in":[57,71],"syndrome.":[59],"Molecular":[60],"testing":[62,77],"confirmed":[63],"sporadic":[64],"fibroblast":[65],"growth":[66],"factor":[67],"receptor":[68],"2":[69],"mutation":[70],"this":[72],"patient.":[73],"Thus,":[74],"molecular":[75],"should":[78],"be":[79],"for":[81],"any":[82],"to":[87],"obtain":[88],"definite":[89],"diagnosis.":[90]},"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2018-10-26T00:00:00"}