{"id":"https://openalex.org/W1528362003","doi":null,"title":"Ebstein's anomaly in a child with osteogenesis imperfecta type I.","display_name":"Ebstein's anomaly in a child with osteogenesis imperfecta type I.","publication_year":2011,"publication_date":"2011-05-01","ids":{"openalex":"https://openalex.org/W1528362003","mag":"1528362003","pmid":"https://pubmed.ncbi.nlm.nih.gov/22461818","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3279069"},"language":"en","primary_location":{"id":"pmid:22461818","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22461818","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":"Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3279069/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044457189","display_name":"Patrizia D\u2019Eufemia","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":"Patrizia D'Eufemia","raw_affiliation_strings":["Department of Pediatrics, \"Sapienza\", University of Rome Viale Regina Elena 324, 00161 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, \"Sapienza\", University of Rome Viale Regina Elena 324, 00161 Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047786509","display_name":"Mauro Celli","orcid":"https://orcid.org/0000-0002-0751-2688","observed_orcids":["https://orcid.org/0000-0002-0751-2688"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mauro Celli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013801760","display_name":"Paolo Versacci","orcid":"https://orcid.org/0000-0002-4484-4729","observed_orcids":["https://orcid.org/0000-0002-4484-4729"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paolo Versacci","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110603051","display_name":"Anna Zambrano","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anna Zambrano","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040785515","display_name":"Valentina Lodato","orcid":"https://orcid.org/0000-0001-9476-3575","observed_orcids":["https://orcid.org/0000-0001-9476-3575"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Valentina Lodato","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086315189","display_name":"P.J. Persiani","orcid":"https://orcid.org/0000-0001-5795-3337","observed_orcids":["https://orcid.org/0000-0001-5795-3337"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pietro Persiani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5061673578","display_name":"Luca Sangiorgi","orcid":"https://orcid.org/0000-0003-3658-1209","observed_orcids":["https://orcid.org/0000-0003-3658-1209"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luca Sangiorgi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3141,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.56125194,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"8","issue":"2","first_page":"50","last_page":"1"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.801800012588501,"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/T11310","display_name":"Connective tissue disorders research","score":0.801800012588501,"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/T10300","display_name":"Congenital Heart Disease Studies","score":0.07440000027418137,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.020600000396370888,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ebstein-anomaly","display_name":"Ebstein's anomaly","score":0.9539999961853027},{"id":"https://openalex.org/keywords/osteogenesis-imperfecta-type-i","display_name":"osteogenesis imperfecta type I","score":0.9869999885559082},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.4580000042915344},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.5149999856948853}],"concepts":[{"id":"https://openalex.org/C2777668750","wikidata":"https://www.wikidata.org/wiki/Q749409","display_name":"Osteogenesis imperfecta","level":2,"score":0.9708168506622314},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7012593746185303},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.6870362758636475},{"id":"https://openalex.org/C2994486495","wikidata":"https://www.wikidata.org/wiki/Q939364","display_name":"Heart defect","level":3,"score":0.47772857546806335},{"id":"https://openalex.org/C2776260777","wikidata":"https://www.wikidata.org/wiki/Q3251367","display_name":"Osteochondrodysplasia","level":2,"score":0.42208608984947205},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3377922773361206},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.2597702741622925},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.25442954897880554},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2489834725856781},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.22236061096191406}],"mesh":[],"locations_count":5,"locations":[{"id":"pmid:22461818","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22461818","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":"Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3279069","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3279069/","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":"Clin Cases Miner Bone Metab","raw_type":"Text"},{"id":"pmh:oai:eprints.bice.rm.cnr.it:6001","doi":null,"is_oa":true,"landing_page_url":"http://eprints.bice.rm.cnr.it/6001/1/portiere.pdf","pdf_url":"http://eprints.bice.rm.cnr.it/6001/1/portiere.pdf","source":{"id":"https://openalex.org/S4306402016","display_name":"CNR Solar (Scientific Open-access Literature Archive and Repository) (Consiglio Nazionale delle Ricerche)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210155236","host_organization_name":"National Research Council","host_organization_lineage":["https://openalex.org/I4210155236"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/442029","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11573/442029","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"mag:1528362003","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22461818","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3279069","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3279069/","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":"Clin Cases Miner Bone Metab","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9763000011444092,"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":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1528362003.pdf","grobid_xml":"https://content.openalex.org/works/W1528362003.grobid-xml"},"referenced_works_count":6,"referenced_works":["https://openalex.org/W24553788","https://openalex.org/W2018962807","https://openalex.org/W2115243325","https://openalex.org/W2137984877","https://openalex.org/W2171646191","https://openalex.org/W2418665801"],"related_works":["https://openalex.org/W2116340463","https://openalex.org/W2137984877","https://openalex.org/W24553788","https://openalex.org/W59673805","https://openalex.org/W2215401487","https://openalex.org/W4306923688","https://openalex.org/W3162667394","https://openalex.org/W4414400257","https://openalex.org/W4391018387","https://openalex.org/W1491438502"],"abstract_inverted_index":{"Cardiovascular":[0],"involvement":[1,67],"is":[2],"relatively":[3,53],"rare":[4,54],"in":[5,30,68],"osteogenesis":[6,26,69],"imperfecta":[7,27],"and":[8],"has":[9],"a":[10,18,39],"predilection":[11],"for":[12],"left-sided":[13],"cardiac":[14,66],"valves.":[15],"We":[16],"report":[17],"5":[19],"years":[20],"old":[21],"female":[22],"child":[23],"affected":[24],"by":[25],"type":[28],"I":[29],"which":[31],"an":[32],"asymptomatic":[33],"mild":[34],"form":[35],"of":[36,50,65],"Ebstein's":[37],"anomaly,":[38],"congenital":[40],"tricuspid":[41],"malformation,":[42],"was":[43],"diagnosed":[44],"during":[45],"routinely":[46],"investigation.":[47],"The":[48],"association":[49],"these":[51],"two":[52],"entities":[55],"could":[56],"provide":[57],"new":[58],"insight":[59],"to":[60],"better":[61],"understand":[62],"the":[63],"pathogenesis":[64],"imperfecta.":[70]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}