{"id":"https://openalex.org/W2001990804","doi":"https://doi.org/10.1016/0190-9622(93)70040-z","title":"Rothmund-Thomson syndrome with osteosarcoma","display_name":"Rothmund-Thomson syndrome with osteosarcoma","publication_year":1993,"publication_date":"1993-02-01","ids":{"openalex":"https://openalex.org/W2001990804","doi":"https://doi.org/10.1016/0190-9622(93)70040-z","mag":"2001990804","pmid":"https://pubmed.ncbi.nlm.nih.gov/8436644"},"language":"en","primary_location":{"id":"doi:10.1016/0190-9622(93)70040-z","doi":"https://doi.org/10.1016/0190-9622(93)70040-z","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0190-9622(93)70040-z","pdf_url":null,"source":{"id":"https://openalex.org/S58727509","display_name":"Journal of the American Academy of Dermatology","issn_l":"0190-9622","issn":["0190-9622","1097-6787"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Academy of Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080898566","display_name":"Christian Allen Drouin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121051","display_name":"H\u00f4tel-Dieu de Qu\u00e9bec","ror":"https://ror.org/034sbqc84","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210121051","https://openalex.org/I4210139015","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Christian A. Drouin","raw_affiliation_strings":["Service de Dermatologie, L'H\u00f4tel-Dieu de Qu\u00e8bec, Canada","Quebec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Dermatologie, L'H\u00f4tel-Dieu de Qu\u00e8bec, Canada","institution_ids":["https://openalex.org/I4210121051"]},{"raw_affiliation_string":"Quebec, Canada","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059891409","display_name":"\u00c9ric Mongrain","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eric Mongrain","raw_affiliation_strings":["Quebec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Quebec, Canada","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037982488","display_name":"Denis Sasseville","orcid":"https://orcid.org/0000-0001-9104-2342","observed_orcids":["https://orcid.org/0000-0001-9104-2342"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Denis Sasseville","raw_affiliation_strings":["Quebec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Quebec, Canada","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075010457","display_name":"H Bouchard","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Henri-Louis Bouchard","raw_affiliation_strings":["Quebec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Quebec, Canada","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112097130","display_name":"Michel Drouin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michel Drouin","raw_affiliation_strings":["Quebec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Quebec, Canada","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5080898566"],"corresponding_institution_ids":["https://openalex.org/I4210121051"],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":5.3864,"has_fulltext":false,"cited_by_count":45,"citation_normalized_percentile":{"value":0.95875906,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"28","issue":"2","first_page":"301","last_page":"305"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.6015999913215637,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.6015999913215637,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/T10253","display_name":"Sarcoma Diagnosis and Treatment","score":0.30079999566078186,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.006200000178068876,"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/rothmund-thomson-syndrome","display_name":"Rothmund-Thomson syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/osteosarcoma","display_name":"osteosarcoma","score":0.9990000128746033},{"id":"https://openalex.org/keywords/genodermatoses","display_name":"genodermatosis","score":0.9520000219345093},{"id":"https://openalex.org/keywords/poikiloderma","display_name":"poikiloderma","score":0.9739999771118164},{"id":"https://openalex.org/keywords/juvenile-cataract","display_name":"juvenile cataract","score":0.878000020980835},{"id":"https://openalex.org/keywords/skeletal-abnormalities","display_name":"skeletal abnormalities","score":0.734000027179718},{"id":"https://openalex.org/keywords/growth-arrest","display_name":"growth arrest","score":0.8529999852180481},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.4519999921321869}],"concepts":[{"id":"https://openalex.org/C2778156654","wikidata":"https://www.wikidata.org/wiki/Q666075","display_name":"Genodermatosis","level":3,"score":0.9748677015304565},{"id":"https://openalex.org/C2778163040","wikidata":"https://www.wikidata.org/wiki/Q1307866","display_name":"Poikiloderma","level":2,"score":0.940873384475708},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.928359866142273},{"id":"https://openalex.org/C2780225610","wikidata":"https://www.wikidata.org/wiki/Q127724","display_name":"Cataracts","level":2,"score":0.6730579733848572},{"id":"https://openalex.org/C2777760704","wikidata":"https://www.wikidata.org/wiki/Q549534","display_name":"Osteosarcoma","level":2,"score":0.5941208004951477},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.5432180166244507},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.4413868188858032},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32184267044067383},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2322637140750885},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.14168637990951538},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D001859","descriptor_name":"Bone Neoplasms","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005269","descriptor_name":"Femur","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011038","descriptor_name":"Rothmund-Thomson Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D012516","descriptor_name":"Osteosarcoma","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/0190-9622(93)70040-z","doi":"https://doi.org/10.1016/0190-9622(93)70040-z","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0190-9622(93)70040-z","pdf_url":null,"source":{"id":"https://openalex.org/S58727509","display_name":"Journal of the American Academy of Dermatology","issn_l":"0190-9622","issn":["0190-9622","1097-6787"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Academy of Dermatology","raw_type":"journal-article"},{"id":"pmid:8436644","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8436644","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":"Journal of the American Academy of Dermatology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1964377805","https://openalex.org/W1965175223","https://openalex.org/W1979512408","https://openalex.org/W1992501005","https://openalex.org/W1995590545","https://openalex.org/W2010078334","https://openalex.org/W2019159798","https://openalex.org/W2024859225","https://openalex.org/W2026674202","https://openalex.org/W2028958455","https://openalex.org/W2034861414","https://openalex.org/W2043942270","https://openalex.org/W2057928792","https://openalex.org/W2059293250","https://openalex.org/W2065914064","https://openalex.org/W2072972796","https://openalex.org/W2076136092","https://openalex.org/W2088509251","https://openalex.org/W2122926920","https://openalex.org/W2127824553","https://openalex.org/W2142136189","https://openalex.org/W2152666101","https://openalex.org/W2381805913","https://openalex.org/W2397308231","https://openalex.org/W2397377011","https://openalex.org/W2397405988","https://openalex.org/W2397990705","https://openalex.org/W2411207563","https://openalex.org/W2471904261","https://openalex.org/W4285719527","https://openalex.org/W4302043507","https://openalex.org/W6690004272","https://openalex.org/W7116981714"],"related_works":["https://openalex.org/W11528053","https://openalex.org/W1997171719","https://openalex.org/W2035884811","https://openalex.org/W2076136092","https://openalex.org/W4235464254","https://openalex.org/W2084800126","https://openalex.org/W2025203151","https://openalex.org/W2072972796","https://openalex.org/W2419764280","https://openalex.org/W1967436631"],"abstract_inverted_index":null,"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}