{"id":"https://openalex.org/W2068450220","doi":"https://doi.org/10.1002/humu.21123","title":"Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)","display_name":"Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)","publication_year":2009,"publication_date":"2009-10-06","ids":{"openalex":"https://openalex.org/W2068450220","doi":"https://doi.org/10.1002/humu.21123","mag":"2068450220","pmid":"https://pubmed.ncbi.nlm.nih.gov/19810120"},"language":"en","primary_location":{"id":"doi:10.1002/humu.21123","doi":"https://doi.org/10.1002/humu.21123","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.21123","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21123","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21123","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020522910","display_name":"Ivy Jennes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210102047","display_name":"Antwerp University Hospital","ror":"https://ror.org/01hwamj44","country_code":"BE","type":"funder","lineage":["https://openalex.org/I4210102047"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Ivy Jennes","raw_affiliation_strings":["Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium","Department of Medical Genetics; University and University Hospital of Antwerp; Antwerp; Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210102047"]},{"raw_affiliation_string":"Department of Medical Genetics; University and University Hospital of Antwerp; Antwerp; Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210102047"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037882413","display_name":"Elena Pedrini","orcid":"https://orcid.org/0000-0001-9980-7741","observed_orcids":["https://orcid.org/0000-0001-9980-7741"]},"institutions":[{"id":"https://openalex.org/I4210121742","display_name":"Istituto Ortopedico Rizzoli","ror":"https://ror.org/02ycyys66","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210121742","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elena Pedrini","raw_affiliation_strings":["Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072728323","display_name":"Monia Zuntini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121742","display_name":"Istituto Ortopedico Rizzoli","ror":"https://ror.org/02ycyys66","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210121742","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Monia Zuntini","raw_affiliation_strings":["Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002795209","display_name":"Marina Mordenti","orcid":"https://orcid.org/0000-0002-2085-3065","observed_orcids":["https://orcid.org/0000-0002-2085-3065"]},"institutions":[{"id":"https://openalex.org/I4210121742","display_name":"Istituto Ortopedico Rizzoli","ror":"https://ror.org/02ycyys66","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210121742","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Marina Mordenti","raw_affiliation_strings":["Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001399539","display_name":"Sahila Balkassmi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Sahila Balkassmi","raw_affiliation_strings":["Center for Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands","institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030854355","display_name":"Carla Asteggiano","orcid":"https://orcid.org/0000-0003-4713-2775","observed_orcids":["https://orcid.org/0000-0003-4713-2775"]},"institutions":[{"id":"https://openalex.org/I166401450","display_name":"Universidad Nacional de C\u00f3rdoba","ror":"https://ror.org/056tb7j80","country_code":"AR","type":"education","lineage":["https://openalex.org/I166401450"]},{"id":"https://openalex.org/I4210143717","display_name":"Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad","ror":"https://ror.org/046a9t092","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I4210143717"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Carla G. Asteggiano","raw_affiliation_strings":["Center for the Study of Congenital Metabolophaties (CEMECO), Children's Hospital of Santi\u0301sima Trinidad, National University of Cordoba, Argentina","Center for the Study of Congenital Metabolophaties (CEMECO), Children's Hospital of Sant\u00edsima Trinidad, National University of Cordoba, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for the Study of Congenital Metabolophaties (CEMECO), Children's Hospital of Santi\u0301sima Trinidad, National University of Cordoba, Argentina","institution_ids":["https://openalex.org/I166401450","https://openalex.org/I4210143717"]},{"raw_affiliation_string":"Center for the Study of Congenital Metabolophaties (CEMECO), Children's Hospital of Sant\u00edsima Trinidad, National University of Cordoba, Argentina","institution_ids":["https://openalex.org/I166401450","https://openalex.org/I4210143717"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041991667","display_name":"Brett M. Casey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210153200","display_name":"BC Children's Hospital","ror":"https://ror.org/04n901w50","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I4210153200"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Brett Casey","raw_affiliation_strings":["Molecular Genetics Laboratory, British Columbia Children's Hospital, Vancouver, BC, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Genetics Laboratory, British Columbia Children's Hospital, Vancouver, BC, Canada","institution_ids":["https://openalex.org/I4210153200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048171390","display_name":"Egbert Bakker","orcid":"https://orcid.org/0000-0002-2843-7357","observed_orcids":["https://orcid.org/0000-0002-2843-7357"]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Bert Bakker","raw_affiliation_strings":["Center for Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands","institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"]}]},{"author_position":"middle","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":[{"id":"https://openalex.org/I4210121742","display_name":"Istituto Ortopedico Rizzoli","ror":"https://ror.org/02ycyys66","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210121742","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Luca Sangiorgi","raw_affiliation_strings":["Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019374336","display_name":"Wim A. Wuyts","orcid":"https://orcid.org/0000-0002-4349-9038","observed_orcids":["https://orcid.org/0000-0002-4349-9038","https://orcid.org/0000-0001-9648-3497"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210102047","display_name":"Antwerp University Hospital","ror":"https://ror.org/01hwamj44","country_code":"BE","type":"funder","lineage":["https://openalex.org/I4210102047"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Wim Wuyts","raw_affiliation_strings":["Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium","Department of Medical Genetics; University and University Hospital of Antwerp; Antwerp; Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210102047"]},{"raw_affiliation_string":"Department of Medical Genetics; University and University Hospital of Antwerp; Antwerp; Belgium","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210102047"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5019374336"],"corresponding_institution_ids":["https://openalex.org/I149213910","https://openalex.org/I4210102047"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":6.3515,"has_fulltext":true,"cited_by_count":204,"citation_normalized_percentile":{"value":0.96708774,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"30","issue":"12","first_page":"1620","last_page":"1627"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.0017000000225380063,"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":0.00039999998989515007,"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/hereditary-multiple-exostoses","display_name":"hereditary multiple exostoses","score":0.9980000257492065},{"id":"https://openalex.org/keywords/ext1","display_name":"EXT1","score":0.9580000042915344},{"id":"https://openalex.org/keywords/ext2","display_name":"EXT2","score":1.0},{"id":"https://openalex.org/keywords/heparan-sulfate-proteoglycans","display_name":"heparan sulfate proteoglycans","score":0.9240000247955322},{"id":"https://openalex.org/keywords/glycosyltransferases","display_name":"glycosyltransferases","score":0.8199999928474426},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.7519999742507935},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.48500001430511475},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.8939999938011169},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8479999899864197},{"id":"https://openalex.org/keywords/mutation-database","display_name":"mutation database","score":0.5019999742507935},{"id":"https://openalex.org/keywords/lovd","display_name":"LOVD","score":0.5789999961853027},{"id":"https://openalex.org/keywords/chondrocyte-proliferation","display_name":"chondrocyte proliferation","score":0.7509999871253967},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.652999997138977}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7197821736335754},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6975630521774292},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6807401776313782},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6806085109710693},{"id":"https://openalex.org/C2778286736","wikidata":"https://www.wikidata.org/wiki/Q1952467","display_name":"Hereditary multiple exostoses","level":3,"score":0.6595672965049744},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5365723371505737},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.5262978076934814},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.5059978365898132},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.48457539081573486},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.094786137342453},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.09438815712928772}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.21123","doi":"https://doi.org/10.1002/humu.21123","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.21123","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21123","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:19810120","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19810120","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/humu.21123","doi":"https://doi.org/10.1002/humu.21123","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.21123","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21123","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G7378882120","display_name":null,"funder_award_id":"CONICET","funder_id":"https://openalex.org/F4320334832","funder_display_name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica"}],"funders":[{"id":"https://openalex.org/F4320312064","display_name":"Universidad Nacional de C\u00f3rdoba","ror":"https://ror.org/056tb7j80"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320321594","display_name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","ror":"https://ror.org/03cqe8w59"},{"id":"https://openalex.org/F4320324659","display_name":"Istituto Ortopedico Rizzoli di Bologna","ror":"https://ror.org/02ycyys66"},{"id":"https://openalex.org/F4320325299","display_name":"Universidad de C\u00f3rdoba","ror":"https://ror.org/05yc77b46"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"id":"https://openalex.org/F4320334832","display_name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","ror":"https://ror.org/03stxzb56"},{"id":"https://openalex.org/F4320337954","display_name":"Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","ror":"https://ror.org/03stxzb56"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2068450220.pdf","grobid_xml":"https://content.openalex.org/works/W2068450220.grobid-xml"},"referenced_works_count":73,"referenced_works":["https://openalex.org/W89925464","https://openalex.org/W106149032","https://openalex.org/W280784868","https://openalex.org/W589700543","https://openalex.org/W1511048586","https://openalex.org/W1511495242","https://openalex.org/W1527002233","https://openalex.org/W1566448969","https://openalex.org/W1963775906","https://openalex.org/W1968210594","https://openalex.org/W1968544660","https://openalex.org/W1976986746","https://openalex.org/W1978739194","https://openalex.org/W1982059998","https://openalex.org/W1984853905","https://openalex.org/W1994864044","https://openalex.org/W1996465034","https://openalex.org/W1998487744","https://openalex.org/W1998849385","https://openalex.org/W2001692558","https://openalex.org/W2007183640","https://openalex.org/W2009139989","https://openalex.org/W2019140215","https://openalex.org/W2019795915","https://openalex.org/W2020995185","https://openalex.org/W2021273501","https://openalex.org/W2022212740","https://openalex.org/W2024281972","https://openalex.org/W2033940805","https://openalex.org/W2033965408","https://openalex.org/W2034362820","https://openalex.org/W2035061498","https://openalex.org/W2035997436","https://openalex.org/W2036088974","https://openalex.org/W2037458235","https://openalex.org/W2045348184","https://openalex.org/W2047649254","https://openalex.org/W2049187503","https://openalex.org/W2049649522","https://openalex.org/W2054445281","https://openalex.org/W2066414256","https://openalex.org/W2068624041","https://openalex.org/W2069954969","https://openalex.org/W2075630737","https://openalex.org/W2077858999","https://openalex.org/W2078621361","https://openalex.org/W2085236613","https://openalex.org/W2085448194","https://openalex.org/W2087336633","https://openalex.org/W2087870987","https://openalex.org/W2106438012","https://openalex.org/W2107985212","https://openalex.org/W2108184622","https://openalex.org/W2112076448","https://openalex.org/W2114561002","https://openalex.org/W2127846999","https://openalex.org/W2127996765","https://openalex.org/W2132640874","https://openalex.org/W2133071075","https://openalex.org/W2135652758","https://openalex.org/W2136667849","https://openalex.org/W2142112187","https://openalex.org/W2145131342","https://openalex.org/W2146712325","https://openalex.org/W2154273966","https://openalex.org/W2155445061","https://openalex.org/W2156014566","https://openalex.org/W2162396165","https://openalex.org/W2292744654","https://openalex.org/W2471464983","https://openalex.org/W4246121849","https://openalex.org/W4250689754","https://openalex.org/W6720703267"],"related_works":["https://openalex.org/W2153770792","https://openalex.org/W2001105869","https://openalex.org/W2418014508","https://openalex.org/W2999050844","https://openalex.org/W2032876365","https://openalex.org/W1882031335","https://openalex.org/W2081157122","https://openalex.org/W2012172239","https://openalex.org/W2403776420","https://openalex.org/W1998487744"],"abstract_inverted_index":{"Multiple":[0,189],"osteochondromas":[1],"(MO)":[2],"is":[3,28,32,93,106,117,184],"an":[4,112],"autosomal":[5],"dominant":[6],"skeletal":[7],"disease":[8],"characterized":[9],"by":[10,186],"the":[11,21,46,60,82,102,149,159,181,187],"formation":[12],"of":[13,23,45,52,64,84,121,130,151,165,180],"multiple":[14],"cartilage-capped":[15],"bone":[16],"tumors":[17],"growing":[18],"outward":[19],"from":[20],"metaphyses":[22],"long":[24],"tubular":[25],"bones.":[26],"MO":[27,137,152,176],"genetically":[29],"heterogeneous,":[30],"and":[31,90,97,145,162,167],"associated":[33],"with":[34,172],"mutations":[35,125,135,141,154],"in":[36,59,81,119,128,136,175],"Exostosin-1":[37],"(EXT1)":[38],"or":[39,114],"Exostosin-2":[40],"(EXT2),":[41],"both":[42],"tumor-suppressor":[43],"genes":[44],"EXT":[47],"gene":[48],"family.":[49],"All":[50],"members":[51],"this":[53,157],"multigene":[54],"family":[55],"encode":[56],"glycosyltransferases":[57],"involved":[58],"adhesion":[61],"and/or":[62],"polymerization":[63],"heparin":[65],"sulfate":[66],"(HS)":[67],"chains":[68],"at":[69,95,108],"HS":[70],"proteoglycans":[71],"(HSPGs).":[72],"HSPGs":[73],"have":[74],"been":[75],"shown":[76],"to":[77],"play":[78],"a":[79],"role":[80],"diffusion":[83],"Ihh,":[85],"thereby":[86],"regulating":[87],"chondrocyte":[88],"proliferation":[89],"differentiation.":[91],"EXT1":[92,113,124,166],"located":[94,107],"8q24.11-q24.13,":[96],"comprises":[98],"11":[99],"exons,":[100],"whereas":[101],"16":[103],"exon":[104],"EXT2":[105,115,134,168],"11p12-p11.":[109],"To":[110],"date,":[111],"mutation":[116],"detected":[118,127],"70-95%":[120],"affected":[122],"individuals.":[123],"are":[126,169],"+/-65%":[129],"cases,":[131],"versus":[132],"+/-35%":[133],"patient":[138],"cohorts.":[139],"Inactivating":[140],"(nonsense,":[142],"frame":[143],"shift,":[144],"splice-site":[146],"mutations)":[147],"represent":[148],"majority":[150],"causing":[153],"(75-80%).":[155],"In":[156],"article,":[158],"clinical":[160],"aspects":[161],"molecular":[163],"genetics":[164],"reviewed":[170],"together":[171],"895":[173],"variants":[174,183],"patients.":[177],"An":[178],"overview":[179],"reported":[182],"provided":[185],"online":[188],"Osteochondromas":[190],"Mutation":[191],"Database":[192],"(http://medgen.ua.ac.be/LOVD).":[193]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":13},{"year":2020,"cited_by_count":20},{"year":2019,"cited_by_count":13},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":15},{"year":2015,"cited_by_count":15},{"year":2014,"cited_by_count":20},{"year":2013,"cited_by_count":18},{"year":2012,"cited_by_count":10}],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2025-10-10T00:00:00"}
