{"id":"https://openalex.org/W2051519086","doi":"https://doi.org/10.1159/000365769","title":"A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation","display_name":"A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2051519086","doi":"https://doi.org/10.1159/000365769","mag":"2051519086","pmid":"https://pubmed.ncbi.nlm.nih.gov/25337072","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4188155"},"language":"en","primary_location":{"id":"doi:10.1159/000365769","doi":"https://doi.org/10.1159/000365769","is_oa":true,"landing_page_url":"https://doi.org/10.1159/000365769","pdf_url":"https://www.karger.com/Article/Pdf/365769","source":{"id":"https://openalex.org/S150607185","display_name":"Molecular Syndromology","issn_l":"1661-8769","issn":["1661-8769","1661-8777"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Syndromology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.karger.com/Article/Pdf/365769","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5038724562","display_name":"Marco Castori","orcid":"https://orcid.org/0000-0002-6069-0993","observed_orcids":["https://orcid.org/0000-0002-6069-0993"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marco Castori","raw_affiliation_strings":["Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071821979","display_name":"Irene Bottillo","orcid":"https://orcid.org/0000-0003-0396-7981","observed_orcids":["https://orcid.org/0000-0003-0396-7981"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Irene Bottillo","raw_affiliation_strings":["Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038422139","display_name":"Daniela D\u2019Angelantonio","orcid":"https://orcid.org/0000-0002-5274-3012","observed_orcids":["https://orcid.org/0000-0002-5274-3012"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Daniela D'Angelantonio","raw_affiliation_strings":["Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081511290","display_name":"Silvia Morlino","orcid":"https://orcid.org/0000-0002-1094-1774","observed_orcids":["https://orcid.org/0000-0002-1094-1774"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Silvia Morlino","raw_affiliation_strings":["Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113601759","display_name":"Carmelilia De Bernardo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carmelilia De Bernardo","raw_affiliation_strings":["Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010752035","display_name":"Giovanna Scassellati Sforzolini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210095143","display_name":"Azienda Ospedaliera San Camillo-Forlanini","ror":"https://ror.org/00j707644","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210095143"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giovanna Scassellati Sforzolini","raw_affiliation_strings":["Division of Obstetrics and Gynecology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Obstetrics and Gynecology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210095143"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034544309","display_name":"Evelina Silvestri","orcid":"https://orcid.org/0000-0002-1200-539X","observed_orcids":["https://orcid.org/0000-0002-1200-539X"]},"institutions":[{"id":"https://openalex.org/I4210095143","display_name":"Azienda Ospedaliera San Camillo-Forlanini","ror":"https://ror.org/00j707644","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210095143"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Evelina Silvestri","raw_affiliation_strings":["Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210095143"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075100814","display_name":"Paola Grammatico","orcid":"https://orcid.org/0000-0002-6864-2574","observed_orcids":["https://orcid.org/0000-0002-6864-2574"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Paola Grammatico","raw_affiliation_strings":["Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.7515,"has_fulltext":true,"cited_by_count":19,"citation_normalized_percentile":{"value":0.84010589,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"5","issue":"5","first_page":"241","last_page":"244"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.5659000277519226,"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":0.5659000277519226,"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":0.14589999616146088,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.11460000276565552,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/nager-syndrome","display_name":"Nager syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/congenital-diaphragmatic-hernia","display_name":"congenital diaphragmatic hernia","score":0.9549999833106995},{"id":"https://openalex.org/keywords/splice-variants","display_name":"splice variants","score":0.8209999799728394},{"id":"https://openalex.org/keywords/fetal-malformations","display_name":"fetal malformations","score":0.5220000147819519},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7390000224113464},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5009999871253967}],"concepts":[{"id":"https://openalex.org/C2777146472","wikidata":"https://www.wikidata.org/wiki/Q2163245","display_name":"Congenital diaphragmatic hernia","level":4,"score":0.6481432318687439},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6272582411766052},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.601550817489624},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.5996838808059692},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.530892550945282},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5294486880302429},{"id":"https://openalex.org/C2777943237","wikidata":"https://www.wikidata.org/wiki/Q2119430","display_name":"Diaphragmatic hernia","level":3,"score":0.5203678011894226},{"id":"https://openalex.org/C20463939","wikidata":"https://www.wikidata.org/wiki/Q811123","display_name":"Diaphragmatic breathing","level":3,"score":0.45327460765838623},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.38126254081726074},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36660611629486084},{"id":"https://openalex.org/C2779096551","wikidata":"https://www.wikidata.org/wiki/Q133076","display_name":"Hernia","level":2,"score":0.35065197944641113},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.273501455783844},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2702023983001709},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2160239815711975},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17638659477233887},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.13927388191223145},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.10684427618980408},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1159/000365769","doi":"https://doi.org/10.1159/000365769","is_oa":true,"landing_page_url":"https://doi.org/10.1159/000365769","pdf_url":"https://www.karger.com/Article/Pdf/365769","source":{"id":"https://openalex.org/S150607185","display_name":"Molecular Syndromology","issn_l":"1661-8769","issn":["1661-8769","1661-8777"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Syndromology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3170116","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4188155","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4188155","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4188155","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Mol Syndromol","raw_type":"Text"},{"id":"pmid:25337072","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25337072","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":"Molecular syndromology","raw_type":"Case Reports"},{"id":"pmh:oai:iris.uniroma1.it:11573/617464","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11573/617464","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1159/000365769","doi":"https://doi.org/10.1159/000365769","is_oa":true,"landing_page_url":"https://doi.org/10.1159/000365769","pdf_url":"https://www.karger.com/Article/Pdf/365769","source":{"id":"https://openalex.org/S150607185","display_name":"Molecular Syndromology","issn_l":"1661-8769","issn":["1661-8769","1661-8777"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Syndromology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2051519086.pdf","grobid_xml":"https://content.openalex.org/works/W2051519086.grobid-xml"},"referenced_works_count":13,"referenced_works":["https://openalex.org/W1546660232","https://openalex.org/W1965277598","https://openalex.org/W1975207400","https://openalex.org/W1999544992","https://openalex.org/W2009846466","https://openalex.org/W2016955095","https://openalex.org/W2032019813","https://openalex.org/W2042637077","https://openalex.org/W2053695981","https://openalex.org/W2081154748","https://openalex.org/W2085809469","https://openalex.org/W2167817111","https://openalex.org/W2168208379"],"related_works":["https://openalex.org/W3137912803","https://openalex.org/W2236092034","https://openalex.org/W2548959511","https://openalex.org/W2167817111","https://openalex.org/W4403328236","https://openalex.org/W1470612785","https://openalex.org/W3126528977","https://openalex.org/W1546660232","https://openalex.org/W2014068122","https://openalex.org/W2619213223"],"abstract_inverted_index":{"Nager":[0],"syndrome,":[1],"or":[2],"acrofacial":[3],"dysostosis":[4],"type":[5],"1":[6,86],"(AFD1),":[7],"is":[8,67,75],"a":[9,47,58,68,93],"rare":[10,69],"multiple":[11],"malformation":[12],"syndrome":[13],"characterized":[14],"by":[15],"hypoplasia":[16],"of":[17,30,87],"first":[18],"and":[19,24,103],"second":[20],"branchial":[21],"arches":[22],"derivatives":[23],"appendicular":[25],"anomalies":[26],"with":[27,40,50,53,82],"variable":[28],"involvement":[29],"the":[31,99],"radial/axial":[32],"ray.":[33],"In":[34],"2012,":[35],"AFD1":[36,51,72],"has":[37],"been":[38],"associated":[39,52],"dominant":[41],"mutations":[42],"in":[43,71,77,85],"SF3B4.":[44],"We":[45],"report":[46],"22-week-old":[48],"fetus":[49],"diaphragmatic":[54,65],"hernia":[55],"due":[56],"to":[57,98,105],"previously":[59],"unreported":[60],"SF3B4":[61,100],"mutation":[62],"(c.35-2A>G).":[63],"Defective":[64],"development":[66],"manifestation":[70],"as":[73],"it":[74],"described":[76],"only":[78],"2":[79],"previous":[80],"cases,":[81],"molecular":[83,90],"confirmation":[84],"them.":[88],"Our":[89],"finding":[91],"adds":[92],"novel":[94],"pathogenic":[95],"splicing":[96],"variant":[97],"mutational":[101],"spectrum":[102],"contributes":[104],"defining":[106],"its":[107],"prenatal/fetal":[108],"phenotype.":[109]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}
