{"id":"https://openalex.org/W4308123736","doi":"https://doi.org/10.3390/genes13111965","title":"Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations","display_name":"Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations","publication_year":2022,"publication_date":"2022-10-28","ids":{"openalex":"https://openalex.org/W4308123736","doi":"https://doi.org/10.3390/genes13111965","pmid":"https://pubmed.ncbi.nlm.nih.gov/36360203","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9689876"},"language":"en","primary_location":{"id":"doi:10.3390/genes13111965","doi":"https://doi.org/10.3390/genes13111965","is_oa":true,"landing_page_url":"https://doi.org/10.3390/genes13111965","pdf_url":"https://www.mdpi.com/2073-4425/13/11/1965/pdf?version=1667287185","source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2073-4425/13/11/1965/pdf?version=1667287185","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037954653","display_name":"Paolo Spinnato","orcid":"https://orcid.org/0000-0001-6060-3215","observed_orcids":["https://orcid.org/0000-0001-6060-3215"]},"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":true,"raw_author_name":"Paolo Spinnato","raw_affiliation_strings":["Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":"https://orcid.org/0000-0001-6060-3215","affiliations":[{"raw_affiliation_string":"Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"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 Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":"https://orcid.org/0000-0001-9980-7741","affiliations":[{"raw_affiliation_string":"Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025092509","display_name":"Miriana Rosaria Petrera","orcid":"https://orcid.org/0000-0002-1275-6265","observed_orcids":["https://orcid.org/0000-0002-1275-6265"]},"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":"Miriana Rosaria Petrera","raw_affiliation_strings":["Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066489034","display_name":"Paola Zarantonello","orcid":"https://orcid.org/0000-0001-8135-0819","observed_orcids":["https://orcid.org/0000-0001-8135-0819"]},"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":"Paola Zarantonello","raw_affiliation_strings":["Pediatrics Orthopaedic and Traumatology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":"https://orcid.org/0000-0001-8135-0819","affiliations":[{"raw_affiliation_string":"Pediatrics Orthopaedic and Traumatology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077274833","display_name":"Giovanni Trisolino","orcid":"https://orcid.org/0000-0002-0361-9920","observed_orcids":["https://orcid.org/0000-0002-0361-9920"]},"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":"Giovanni Trisolino","raw_affiliation_strings":["Pediatrics Orthopaedic and Traumatology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics Orthopaedic and Traumatology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"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 Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062792136","display_name":"Maria Carpenzano","orcid":"https://orcid.org/0000-0002-5406-8014","observed_orcids":["https://orcid.org/0000-0002-5406-8014"]},"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":"Maria Carpenzano","raw_affiliation_strings":["Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":"https://orcid.org/0000-0002-5406-8014","affiliations":[{"raw_affiliation_string":"Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057075276","display_name":"Amandine Cromb\u00e9","orcid":"https://orcid.org/0000-0003-0098-6482","observed_orcids":["https://orcid.org/0000-0003-0098-6482"]},"institutions":[{"id":"https://openalex.org/I4210112727","display_name":"H\u00f4pital Pellegrin","ror":"https://ror.org/02x581406","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443","https://openalex.org/I4210112727"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Amandine Cromb\u00e9","raw_affiliation_strings":["Department of Musculoskeletal Imaging, Pellegrin University Hospital, FR-33076 Bordeaux, France"],"raw_orcid":"https://orcid.org/0000-0003-0098-6482","affiliations":[{"raw_affiliation_string":"Department of Musculoskeletal Imaging, Pellegrin University Hospital, FR-33076 Bordeaux, France","institution_ids":["https://openalex.org/I4210112727"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066437317","display_name":"Cecilia Tetta","orcid":"https://orcid.org/0000-0001-6428-5592","observed_orcids":["https://orcid.org/0000-0001-6428-5592"]},"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":"Cecilia Tetta","raw_affiliation_strings":["Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"],"raw_orcid":"https://orcid.org/0000-0001-6428-5592","affiliations":[{"raw_affiliation_string":"Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy","institution_ids":["https://openalex.org/I4210121742"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5037954653"],"corresponding_institution_ids":["https://openalex.org/I4210121742"],"apc_list":{"value":2400,"currency":"CHF","value_usd":2513},"apc_paid":{"value":2400,"currency":"CHF","value_usd":2513},"fwci":1.2412,"has_fulltext":true,"cited_by_count":31,"citation_normalized_percentile":{"value":0.77150859,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"13","issue":"11","first_page":"1965","last_page":"1965"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11219","display_name":"Bone Metabolism and Diseases","score":0.9663000106811523,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular 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"}},"topics":[{"id":"https://openalex.org/T11219","display_name":"Bone Metabolism and Diseases","score":0.9663000106811523,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular 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"}},{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.007600000128149986,"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/T13328","display_name":"Osteomyelitis and Bone Disorders Research","score":0.007300000172108412,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/osteopetrosis","display_name":"osteopetrosis","score":1.0},{"id":"https://openalex.org/keywords/radiological-features","display_name":"radiological features","score":0.746999979019165},{"id":"https://openalex.org/keywords/mode-of-inheritance","display_name":"mode of inheritance","score":0.7179999947547913},{"id":"https://openalex.org/keywords/autosomal-recessive-osteopetrosis","display_name":"autosomal recessive osteopetrosis","score":0.9309999942779541},{"id":"https://openalex.org/keywords/erlenmeyer-flask-deformity","display_name":"Erlenmeyer flask deformity","score":0.9190000295639038},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.5199999809265137},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5270000100135803}],"concepts":[{"id":"https://openalex.org/C2781078528","wikidata":"https://www.wikidata.org/wiki/Q1755568","display_name":"Osteopetrosis","level":2,"score":0.9264324903488159},{"id":"https://openalex.org/C190892606","wikidata":"https://www.wikidata.org/wiki/Q3512464","display_name":"Radiological weapon","level":2,"score":0.6780396699905396},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.6072304248809814},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3727680742740631},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3656685948371887},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3598403036594391},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2985191345214844},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.17983531951904297},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09184357523918152}],"mesh":[{"descriptor_ui":"D002119","descriptor_name":"Calcium Carbonate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D010022","descriptor_name":"Osteopetrosis","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D010022","descriptor_name":"Osteopetrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010022","descriptor_name":"Osteopetrosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D011871","descriptor_name":"Radiology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.3390/genes13111965","doi":"https://doi.org/10.3390/genes13111965","is_oa":true,"landing_page_url":"https://doi.org/10.3390/genes13111965","pdf_url":"https://www.mdpi.com/2073-4425/13/11/1965/pdf?version=1667287185","source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},{"id":"pmid:36360203","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36360203","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":"Genes","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9689876","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9689876/","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes (Basel)","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:d45e7ceb3472468ea81a1bf9a0bd6b52","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/d45e7ceb3472468ea81a1bf9a0bd6b52","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"Genes, Vol 13, Iss 1965, p 1965 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/genes13111965","doi":"https://doi.org/10.3390/genes13111965","is_oa":true,"landing_page_url":"https://doi.org/10.3390/genes13111965","pdf_url":"https://www.mdpi.com/2073-4425/13/11/1965/pdf?version=1667287185","source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9074000120162964,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4308123736.pdf","grobid_xml":"https://content.openalex.org/works/W4308123736.grobid-xml"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W184965618","https://openalex.org/W1931693502","https://openalex.org/W1965027229","https://openalex.org/W1970341718","https://openalex.org/W1988971693","https://openalex.org/W1999914243","https://openalex.org/W2002842508","https://openalex.org/W2003367233","https://openalex.org/W2038561015","https://openalex.org/W2055599498","https://openalex.org/W2070374560","https://openalex.org/W2072655324","https://openalex.org/W2110780544","https://openalex.org/W2119053620","https://openalex.org/W2158119213","https://openalex.org/W2410615927","https://openalex.org/W2471782771","https://openalex.org/W2597260089","https://openalex.org/W2669240480","https://openalex.org/W3046800222","https://openalex.org/W3090692802","https://openalex.org/W3125390129","https://openalex.org/W3187932017","https://openalex.org/W4245373526","https://openalex.org/W4293275808","https://openalex.org/W4294658054","https://openalex.org/W4295951534"],"related_works":["https://openalex.org/W2521824265","https://openalex.org/W4317914411","https://openalex.org/W1981303532","https://openalex.org/W2017585095","https://openalex.org/W4387987182","https://openalex.org/W4245373526","https://openalex.org/W2035296096","https://openalex.org/W2281429619","https://openalex.org/W2033382166","https://openalex.org/W2766404360"],"abstract_inverted_index":{"Osteopetrosis":[0,107],"(from":[1,124],"the":[2,19,22,39,45,48,64,78,88,100,103,150,159,164,171,181,234,241,293,299,307],"Greek":[3],"\"osteo\":":[4],"bone;":[5],"\"petrosis\":":[6],"stone)":[7],"is":[8,84],"a":[9,56,74,109,228],"clinically":[10],"and":[11,44,83,91,99,122,139,170,178,202,210,256,261,277,279,295],"genetically":[12],"heterogeneous":[13],"group":[14],"of":[15,18,26,41,81,102,112,147,204,225,247,284,292,298,315],"rare":[16],"diseases":[17],"skeleton,":[20],"sharing":[21],"same":[23],"main":[24,144,308],"characteristic":[25,297],"an":[27,290],"abnormally":[28],"increased":[29,217],"bone":[30,53,218],"density.":[31],"Dense":[32],"bones":[33],"in":[34,67,69,77,86,96,233,252,259,264,269,275,312],"radiological":[35,212,309],"studies":[36],"are":[37,149,207],"considered":[38],"hallmark":[40],"these":[42],"diseases,":[43],"reason":[46],"for":[47,63],"common":[49],"term":[50],"used:":[51],"\"Marble":[52],"disease\".":[54],"Interestingly,":[55],"radiologist,":[57],"Dr.":[58],"Albers-Schonberg,":[59],"described":[60],"this":[61,301],"disease":[62,89,141],"first":[65],"time":[66],"Germany":[68],"1904.":[70],"Indeed,":[71],"radiology":[72],"has":[73],"key":[75],"role":[76],"clinical":[79,118,296],"diagnosis":[80],"osteopetrosis":[82,148,316],"fundamental":[85],"assessing":[87],"severity":[90,226],"complications,":[92],"as":[93,95],"well":[94],"follow-up":[97],"controls":[98],"evaluation":[101],"response":[104],"to":[105,126,136,215],"treatment.":[106],"includes":[108],"broad":[110],"spectrum":[111],"genetic":[113],"mutations":[114],"with":[115,154,195,222,318],"very":[116],"different":[117,132,140,196,223,237,313],"symptoms,":[119],"age":[120],"onset,":[121],"prognosis":[123],"mild":[125],"severe).":[127],"This":[128],"diversity":[129],"translates":[130],"into":[131],"imaging":[133],"patterns":[134],"related":[135,214],"specific":[137],"mutations,":[138],"severity.":[142],"The":[143],"recognized":[145],"types":[146,194,221],"infantile":[151],"malignant":[152],"forms":[153,314],"autosomal":[155,166,172],"recessive":[156,162,167],"transmission":[157],"(ARO-including":[158],"rarer":[160],"X-linked":[161],"form);":[163],"intermediate":[165],"form":[168],"(IAO);":[169],"dominant":[173],"ones":[174],"ADO,":[175],"type":[176,179,254,271,286],"I,":[177],"II,":[180],"latter":[182],"being":[183],"called":[184],"'Albers-Schonberg'":[185],"disease.":[186],"Imaging":[187],"features":[188,213,310],"may":[189],"change":[190],"among":[191],"those":[192],"distinct":[193],"patterns,":[197],"severities,":[198],"skeletal":[199],"segment":[200],"involvement,":[201],"speeds":[203],"progression.":[205],"There":[206],"several":[208],"classical":[209],"well-recognized":[211],"osteopetrosis:":[216],"density":[219],"(all":[220],"degrees":[224],"assuming":[227],"'Marble":[229],"Bone":[230],"Appearance'":[231],"especially":[232],"ARO":[235,260,276],"type),":[236],"metaphyseal":[238],"alterations/enlargement":[239],"including":[240],"so-called":[242],"'Erlenmeyer":[243],"flask":[244],"deformity'":[245],"(particularly":[246],"femoral":[248],"bones,":[249],"more":[250],"frequent":[251,258,268,274],"ADO":[253,270,285],"2,":[255,272],"less":[257,273],"IAO),":[262,278],"'bone":[263],"bone'":[265],"appearance":[266,282],"(more":[267],"'rugger-jersey":[280],"spine'":[281],"(typical":[283],"2).":[287],"After":[288],"conducting":[289],"overview":[291],"epidemiological":[294],"disease,":[300],"review":[302],"article":[303],"aims":[304],"at":[305],"summarizing":[306],"found":[311],"together":[317],"their":[319],"inheritance":[320],"pattern.":[321]},"counts_by_year":[{"year":2026,"cited_by_count":12},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":3}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2022-11-08T00:00:00"}
