{"id":"https://openalex.org/W4292002811","doi":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","title":"Hereditary leiomyomatosis and renal cell cancer: a case report","display_name":"Hereditary leiomyomatosis and renal cell cancer: a case report","publication_year":2022,"publication_date":"2022-08-15","ids":{"openalex":"https://openalex.org/W4292002811","doi":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216"},"language":"en","primary_location":{"id":"doi:10.17650/1726-9776-2022-18-2-211-216","doi":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","is_oa":true,"landing_page_url":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","pdf_url":"https://oncourology.abvpress.ru/oncur/article/download/1550/1381","source":{"id":"https://openalex.org/S2737187798","display_name":"Cancer Urology","issn_l":"1726-9776","issn":["1726-9776","1996-1812"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310312679","host_organization_name":"ABV-press","host_organization_lineage":["https://openalex.org/P4310312679"],"host_organization_lineage_names":["ABV-press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Urology","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W4292002811"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://oncourology.abvpress.ru/oncur/article/download/1550/1381","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067785382","display_name":"\u041c. \u0413. \u0424\u0438\u043b\u0438\u043f\u043f\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-1883-2214","observed_orcids":["https://orcid.org/0000-0002-1883-2214"]},"institutions":[{"id":"https://openalex.org/I4210090957","display_name":"Russian Cancer Research Center NN Blokhin","ror":"https://ror.org/00ab9fg88","country_code":"RU","type":"facility","lineage":["https://openalex.org/I4210090957"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"M. G. Filippova","raw_affiliation_strings":["N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia"],"raw_orcid":"https://orcid.org/0000-0002-1883-2214","affiliations":[{"raw_affiliation_string":"N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia","institution_ids":["https://openalex.org/I4210090957","https://openalex.org/I4210117042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032353774","display_name":"Dmitry S. Mikhaylenko","orcid":"https://orcid.org/0000-0001-9780-8708","observed_orcids":["https://orcid.org/0000-0001-9780-8708"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]},{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"D. S. Mikhaylenko","raw_affiliation_strings":["I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","Research Centre for Medical Genetics","Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)"],"raw_orcid":"https://orcid.org/0000-0001-9780-8708","affiliations":[{"raw_affiliation_string":"I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","institution_ids":["https://openalex.org/I17877952"]},{"raw_affiliation_string":"Research Centre for Medical Genetics","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","institution_ids":["https://openalex.org/I17877952","https://openalex.org/I4210117042","https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060671669","display_name":"\u0418\u0433\u043e\u0440\u044c \u0412\u044f\u0447\u0435\u0441\u043b\u0430\u0432\u043e\u0432\u0438\u0447 \u0421\u0430\u043c\u043e\u0439\u043b\u0435\u043d\u043a\u043e","orcid":"https://orcid.org/0000-0001-7150-5071","observed_orcids":["https://orcid.org/0000-0001-7150-5071"]},"institutions":[{"id":"https://openalex.org/I4210090957","display_name":"Russian Cancer Research Center NN Blokhin","ror":"https://ror.org/00ab9fg88","country_code":"RU","type":"facility","lineage":["https://openalex.org/I4210090957"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"I. V. Samoylenko","raw_affiliation_strings":["N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia"],"raw_orcid":"https://orcid.org/0000-0001-7150-5071","affiliations":[{"raw_affiliation_string":"N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia","institution_ids":["https://openalex.org/I4210090957","https://openalex.org/I4210117042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033462961","display_name":"Yu. Yu. Sergeev","orcid":"https://orcid.org/0000-0002-4193-1579","observed_orcids":["https://orcid.org/0000-0002-4193-1579"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Yu. S. Sergeev","raw_affiliation_strings":["I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)"],"raw_orcid":"https://orcid.org/0000-0002-4193-1579","affiliations":[{"raw_affiliation_string":"I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052243709","display_name":"\u041d. \u0410. \u041a\u043e\u0437\u043b\u043e\u0432","orcid":"https://orcid.org/0000-0003-3852-3969","observed_orcids":["https://orcid.org/0000-0003-3852-3969"]},"institutions":[{"id":"https://openalex.org/I4210090957","display_name":"Russian Cancer Research Center NN Blokhin","ror":"https://ror.org/00ab9fg88","country_code":"RU","type":"facility","lineage":["https://openalex.org/I4210090957"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"N. A. Kozlov","raw_affiliation_strings":["N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia"],"raw_orcid":"https://orcid.org/0000-0003-3852-3969","affiliations":[{"raw_affiliation_string":"N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia","institution_ids":["https://openalex.org/I4210090957","https://openalex.org/I4210117042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086601750","display_name":"\u0418. \u0410. \u0424\u0430\u0439\u043d\u0448\u0442\u0435\u0439\u043d","orcid":"https://orcid.org/0000-0002-1647-9234","observed_orcids":["https://orcid.org/0000-0002-1647-9234"]},"institutions":[{"id":"https://openalex.org/I4210090957","display_name":"Russian Cancer Research Center NN Blokhin","ror":"https://ror.org/00ab9fg88","country_code":"RU","type":"facility","lineage":["https://openalex.org/I4210090957"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"I. A. Fainstein","raw_affiliation_strings":["N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia"],"raw_orcid":"https://orcid.org/0000-0002-1647-9234","affiliations":[{"raw_affiliation_string":"N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia","institution_ids":["https://openalex.org/I4210090957","https://openalex.org/I4210117042"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023879657","display_name":"E. A. Alekseeva","orcid":"https://orcid.org/0000-0002-7035-1362","observed_orcids":["https://orcid.org/0000-0002-7035-1362"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]},{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"E. A. Alekseeva","raw_affiliation_strings":["I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","Research Centre for Medical Genetics","Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)"],"raw_orcid":"https://orcid.org/0000-0002-7035-1362","affiliations":[{"raw_affiliation_string":"I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","institution_ids":["https://openalex.org/I17877952"]},{"raw_affiliation_string":"Research Centre for Medical Genetics","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)","institution_ids":["https://openalex.org/I17877952","https://openalex.org/I4210117042","https://openalex.org/I4210126689"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1107,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.35102552,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"18","issue":"2","first_page":"211","last_page":"216"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.3418000042438507,"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"}},"topics":[{"id":"https://openalex.org/T10449","display_name":"Renal cell carcinoma treatment","score":0.3418000042438507,"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.16609999537467957,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.06960000097751617,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic 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/hereditary-leiomyomatosis-and-renal-cell-cancer","display_name":"hereditary leiomyomatosis and renal cell carcinoma","score":0.9789999723434448},{"id":"https://openalex.org/keywords/fh-gene","display_name":"FH gene","score":0.8740000128746033},{"id":"https://openalex.org/keywords/uterine-fibroids","display_name":"uterine fibroids","score":0.7480000257492065},{"id":"https://openalex.org/keywords/papillary-renal-cell-carcinoma","display_name":"papillary renal cell carcinoma","score":0.8529999852180481},{"id":"https://openalex.org/keywords/pheochromocytoma","display_name":"pheochromocytoma","score":0.9629999995231628},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.7739999890327454},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8600000143051147},{"id":"https://openalex.org/keywords/family-screening","display_name":"family screening","score":0.5569999814033508},{"id":"https://openalex.org/keywords/cancer-surveillance","display_name":"cancer surveillance","score":0.6029999852180481}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8792214393615723},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.6374276280403137},{"id":"https://openalex.org/C2910498315","wikidata":"https://www.wikidata.org/wiki/Q4667534","display_name":"Leiomyomatosis","level":3,"score":0.6307122111320496},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.6197012066841125},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5681570172309875},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.5387457609176636},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5273845195770264},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.5073308348655701},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46310824155807495},{"id":"https://openalex.org/C2777277851","wikidata":"https://www.wikidata.org/wiki/Q1348398","display_name":"Cancer syndrome","level":5,"score":0.46007710695266724},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4336230754852295},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.4328187108039856},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4324638247489929},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.3659626245498657},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.3650633692741394},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3259992003440857},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2919926643371582},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24256274104118347},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13438832759857178},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.12823030352592468},{"id":"https://openalex.org/C2777795800","wikidata":"https://www.wikidata.org/wiki/Q4667534","display_name":"Leiomyoma","level":2,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.17650/1726-9776-2022-18-2-211-216","doi":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","is_oa":true,"landing_page_url":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","pdf_url":"https://oncourology.abvpress.ru/oncur/article/download/1550/1381","source":{"id":"https://openalex.org/S2737187798","display_name":"Cancer Urology","issn_l":"1726-9776","issn":["1726-9776","1996-1812"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310312679","host_organization_name":"ABV-press","host_organization_lineage":["https://openalex.org/P4310312679"],"host_organization_lineage_names":["ABV-press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Urology","raw_type":"journal-article"},{"id":"pmh:oai:oai.oncourology.elpub.ru:article/1550","doi":null,"is_oa":true,"landing_page_url":"https://oncourology.abvpress.ru/oncur/article/view/1550","pdf_url":null,"source":{"id":"https://openalex.org/S4306401669","display_name":"Oncourology (Russian Society of Oncourologists)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210112414","host_organization_name":"Russian Society of Clinical Oncology","host_organization_lineage":["https://openalex.org/I4210112414"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Cancer Urology; \u0422\u043e\u043c 18, \u2116 2 (2022); 211-216","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.17650/1726-9776-2022-18-2-211-216","doi":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","is_oa":true,"landing_page_url":"https://doi.org/10.17650/1726-9776-2022-18-2-211-216","pdf_url":"https://oncourology.abvpress.ru/oncur/article/download/1550/1381","source":{"id":"https://openalex.org/S2737187798","display_name":"Cancer Urology","issn_l":"1726-9776","issn":["1726-9776","1996-1812"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310312679","host_organization_name":"ABV-press","host_organization_lineage":["https://openalex.org/P4310312679"],"host_organization_lineage_names":["ABV-press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Urology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320327494","display_name":"Ministry of Science and Higher Education of the Russian Federation","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4292002811.pdf","grobid_xml":"https://content.openalex.org/works/W4292002811.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W2010595044","https://openalex.org/W2050055082","https://openalex.org/W2532739838","https://openalex.org/W2613362156","https://openalex.org/W2770026599","https://openalex.org/W2802843454","https://openalex.org/W2889646458","https://openalex.org/W2898789672","https://openalex.org/W2955467137","https://openalex.org/W2982397703","https://openalex.org/W2987543405","https://openalex.org/W2993117518","https://openalex.org/W3008231705","https://openalex.org/W3022865488","https://openalex.org/W3025940040","https://openalex.org/W3043083515","https://openalex.org/W3044174655","https://openalex.org/W3093014865","https://openalex.org/W3095395270","https://openalex.org/W4205710681"],"related_works":["https://openalex.org/W3197277534","https://openalex.org/W2327398679","https://openalex.org/W1990039958","https://openalex.org/W2507684908","https://openalex.org/W4414832604","https://openalex.org/W7211995888","https://openalex.org/W2791527077","https://openalex.org/W2164311435","https://openalex.org/W4288796554","https://openalex.org/W3132813703"],"abstract_inverted_index":{"This":[0],"article":[1],"presents":[2],"a":[3,18,40,105],"case":[4,151],"report":[5,152],"of":[6,42,62,80,89,92,99,126,167,174],"hereditary":[7,177],"leiomyomatosis":[8],"and":[9,28,34,48,53,95,124,159,169],"renal":[10],"cell":[11],"cancer":[12],"(HLRCC)":[13],"with":[14,107],"new":[15],"mutation":[16,76,102,117],"in":[17,77,104,121,140],"25-year-old":[19],"female":[20],"patient":[21,38,64,106],"admitted":[22],"to":[23,31,44,162],"the":[24,63,70,81,97,112,122,127,131,164,171],"clinic":[25],"for":[26,111,146,156],"diagnosis":[27,98,173],"treatment":[29],"due":[30],"multiple":[32],"skin":[33],"uterus":[35],"leiomyomas.":[36],"The":[37,101,115,150],"has":[39],"history":[41],"surgery":[43],"remove":[45],"adrenal":[46],"pheochromocytoma":[47],"papillary":[49],"kidney":[50],"cancer.":[51],"Clinical":[52],"laboratory":[54],"examination":[55],"as":[56,58],"well":[57],"medical":[59,134],"genetic":[60,135,172],"counseling":[61,136],"were":[65,144],"performed.":[66],"We":[67],"have":[68],"detected":[69],"heterozygous":[71],"c.395_399del":[72,103],"(p.L132*)":[73],"germline":[74],"nonsense":[75],"exon":[78],"4":[79],"FH":[82],"gene":[83,94],"using":[84],"polymerase":[85],"chain":[86],"reaction/Sanger":[87],"sequencing":[88],"exons":[90],"1\u201310":[91],"this":[93,141,175],"confirmed":[96],"HLRCC.":[100],"HLRCC":[108,168],"was":[109,118,137],"described":[110],"first":[113],"time.":[114],"identical":[116],"also":[119],"found":[120],"mother":[123],"sister":[125],"patient.":[128],"Based":[129],"on":[130],"obtained":[132],"results,":[133],"carried":[138],"out":[139],"family,":[142],"recommendations":[143],"given":[145],"further":[147],"oncological":[148,178],"monitoring.":[149],"could":[153],"be":[154],"useful":[155],"geneticists,":[157],"oncologists":[158],"other":[160],"specialists":[161],"interpretate":[163],"clinical":[165],"heterogeneity":[166],"improve":[170],"rare":[176],"syndrome.":[179]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2022-08-16T00:00:00"}