{"id":"https://openalex.org/W7203733990","doi":"https://doi.org/10.1007/s40142-026-00260-7","title":"Founder SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma: Further Evidence for An Iberian Founder Effect","display_name":"Founder SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma: Further Evidence for An Iberian Founder Effect","publication_year":2026,"publication_date":"2026-08-19","ids":{"openalex":"https://openalex.org/W7203733990","doi":"https://doi.org/10.1007/s40142-026-00260-7"},"language":"en","primary_location":{"id":"doi:10.1007/s40142-026-00260-7","doi":"https://doi.org/10.1007/s40142-026-00260-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s40142-026-00260-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s40142-026-00260-7.pdf","source":{"id":"https://openalex.org/S2764930153","display_name":"Current Genetic Medicine Reports","issn_l":"2167-4876","issn":["2167-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Genetic Medicine Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s40142-026-00260-7.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112559455","display_name":"Paula Bruna Ara\u00fajo","orcid":"https://orcid.org/0000-0001-5393-9386","observed_orcids":["https://orcid.org/0000-0001-5393-9386"]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Paula Bruna Araujo","raw_affiliation_strings":["Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039010255","display_name":"Jo\u00e3o Bosco Nascimento","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Jo\u00e3o Bosco Nascimento","raw_affiliation_strings":["Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090812101","display_name":"Mirna Sanchez Carvallo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Mirna Sanchez Carvallo","raw_affiliation_strings":["Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037207855","display_name":"Leandro Miranda\u2010Alves","orcid":"https://orcid.org/0000-0001-7832-8717","observed_orcids":["https://orcid.org/0000-0001-7832-8717"]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Leandro Miranda-Alves","raw_affiliation_strings":["Laborat\u00f3rio de Endocrinologia Experimental, Instituto de Ci\u00eancias Biom\u00e9dicas-LEEx, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","Medical School, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laborat\u00f3rio de Endocrinologia Experimental, Instituto de Ci\u00eancias Biom\u00e9dicas-LEEx, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584"]},{"raw_affiliation_string":"Medical School, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088500248","display_name":"Delmar Muniz Louren\u00e7o","orcid":"https://orcid.org/0000-0003-1147-4159","observed_orcids":["https://orcid.org/0000-0003-1147-4159"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210088998","display_name":"Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo","ror":"https://ror.org/005vqqr19","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210088998"]},{"id":"https://openalex.org/I4210145268","display_name":"Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo","ror":"https://ror.org/03se9eg94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210145268"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Delmar Muniz Louren\u00e7o","raw_affiliation_strings":["Division of Endocrinology and Metabolism, Medical School and Hospital das Cl\u00ednicas (HCFMUSP), Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brazil","Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo (ICESP), S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, Medical School and Hospital das Cl\u00ednicas (HCFMUSP), Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4210145268"]},{"raw_affiliation_string":"Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo (ICESP), S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I4210088998"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078045756","display_name":"Erika O. Naliato","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405268612","display_name":"Laborat\u00f3rio Associado TERRA","ror":"https://ror.org/01hkg7p16","country_code":"PT","type":"facility","lineage":["https://openalex.org/I4405268612"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Erika O. Naliato","raw_affiliation_strings":["Independent Researcher, Teresopolis, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Independent Researcher, Teresopolis, Brazil","institution_ids":["https://openalex.org/I4405268612"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5147637970","display_name":"Mateus Henrique Veloso Miranda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Mateus Henrique Veloso Miranda","raw_affiliation_strings":["Medical School, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082392343","display_name":"S\u00edlvio Henriques da Cunha Neto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Silvio H. da Cunha Neto","raw_affiliation_strings":["Surgery Department and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Surgery Department and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109398772","display_name":"Ana Paula Aguiar Vidal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Ana Paula Aguiar Vidal","raw_affiliation_strings":["Pathology Department and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pathology Department and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089516153","display_name":"Mafalda Pinto","orcid":"https://orcid.org/0000-0003-4684-4797","observed_orcids":["https://orcid.org/0000-0003-4684-4797"]},"institutions":[{"id":"https://openalex.org/I182534213","display_name":"Universidade do Porto","ror":"https://ror.org/043pwc612","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Mafalda Pinto","raw_affiliation_strings":["Department of Patology, Faculty of Medicine, Universidade do Porto, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Patology, Faculty of Medicine, Universidade do Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063696842","display_name":"Paula Soares","orcid":"https://orcid.org/0000-0001-9607-6998","observed_orcids":["https://orcid.org/0000-0001-9607-6998"]},"institutions":[{"id":"https://openalex.org/I182534213","display_name":"Universidade do Porto","ror":"https://ror.org/043pwc612","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Paula Soares","raw_affiliation_strings":["Department of Medicine, Faculty of Medicine, Universidade de Porto, Porto, Portugal","Department of Patology, Faculty of Medicine, Universidade do Porto, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Faculty of Medicine, Universidade de Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213"]},{"raw_affiliation_string":"Department of Patology, Faculty of Medicine, Universidade do Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5129020660","display_name":"Jorge Lima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I182534213","display_name":"Universidade do Porto","ror":"https://ror.org/043pwc612","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Jorge Lima","raw_affiliation_strings":["Department of Medicine, Faculty of Medicine, Universidade de Porto, Porto, Portugal","Department of Patology, Faculty of Medicine, Universidade do Porto, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Faculty of Medicine, Universidade de Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213"]},{"raw_affiliation_string":"Department of Patology, Faculty of Medicine, Universidade do Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040978542","display_name":"A Violante","orcid":"https://orcid.org/0000-0001-8721-501X","observed_orcids":["https://orcid.org/0000-0001-8721-501X"]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]},{"id":"https://openalex.org/I4210138087","display_name":"Hospital Universit\u00e1rio Clementino Fraga Filho","ror":"https://ror.org/04pznag94","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210138087"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Alice Helena Dutra Violante","raw_affiliation_strings":["Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical School and Hospital Universit\u00e1rio Clementino Fraga Filho/HU Brasil, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil","institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5040978542","https://openalex.org/A5112559455"],"corresponding_institution_ids":["https://openalex.org/I122140584","https://openalex.org/I4210138087"],"apc_list":{"value":4090,"currency":"USD","value_usd":4090},"apc_paid":{"value":4090,"currency":"USD","value_usd":4090},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11054","display_name":"Adrenal and Paraganglionic Tumors","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11054","display_name":"Adrenal and Paraganglionic Tumors","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T14326","display_name":"Ear and Head Tumors","score":0.00039999998989515007,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/paraganglioma","display_name":"paraganglioma","score":0.9610000252723694},{"id":"https://openalex.org/keywords/pheochromocytoma","display_name":"pheochromocytoma","score":0.9070000052452087},{"id":"https://openalex.org/keywords/sdhb","display_name":"SDHB","score":0.7039999961853027},{"id":"https://openalex.org/keywords/exon-1-deletion","display_name":"exon 1 deletion","score":0.9369999766349792},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9290000200271606},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.7149999737739563},{"id":"https://openalex.org/keywords/pituitary-adenoma","display_name":"pituitary adenoma","score":0.9660000205039978},{"id":"https://openalex.org/keywords/neuroendocrine-tumors","display_name":"neuroendocrine tumors","score":0.8740000128746033},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.8889999985694885},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.5759999752044678},{"id":"https://openalex.org/keywords/family-screening","display_name":"family screening","score":0.8349999785423279},{"id":"https://openalex.org/keywords/brazilian-patients","display_name":"Brazilian patients","score":0.7300000190734863}],"concepts":[{"id":"https://openalex.org/C2780744430","wikidata":"https://www.wikidata.org/wiki/Q14916125","display_name":"SDHB","level":5,"score":0.9351000189781189},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7646999955177307},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6759999990463257},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5710999965667725},{"id":"https://openalex.org/C2776734335","wikidata":"https://www.wikidata.org/wiki/Q581592","display_name":"Paraganglioma","level":2,"score":0.5695000290870667},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.5231000185012817},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5112000107765198},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.46720001101493835},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.44510000944137573},{"id":"https://openalex.org/C2779512018","wikidata":"https://www.wikidata.org/wiki/Q536269","display_name":"Pheochromocytoma","level":2,"score":0.4129999876022339},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.37229999899864197},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.350600004196167},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.34790000319480896},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.302700012922287},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.25440001487731934}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/s40142-026-00260-7","doi":"https://doi.org/10.1007/s40142-026-00260-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s40142-026-00260-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s40142-026-00260-7.pdf","source":{"id":"https://openalex.org/S2764930153","display_name":"Current Genetic Medicine Reports","issn_l":"2167-4876","issn":["2167-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Genetic Medicine Reports","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1007/s40142-026-00260-7","doi":"https://doi.org/10.1007/s40142-026-00260-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s40142-026-00260-7","pdf_url":"https://link.springer.com/content/pdf/10.1007/s40142-026-00260-7.pdf","source":{"id":"https://openalex.org/S2764930153","display_name":"Current Genetic Medicine Reports","issn_l":"2167-4876","issn":["2167-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Genetic Medicine Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1840770272","display_name":null,"funder_award_id":"E-26/","funder_id":"https://openalex.org/F4320322749","funder_display_name":"Funda\u00e7\u00e3o Carlos Chagas Filho de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro"},{"id":"https://openalex.org/G2311368543","display_name":null,"funder_award_id":"E-26/210","funder_id":"https://openalex.org/F4320322749","funder_display_name":"Funda\u00e7\u00e3o Carlos Chagas Filho de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro"}],"funders":[{"id":"https://openalex.org/F4320321091","display_name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","ror":"https://ror.org/00x0ma614"},{"id":"https://openalex.org/F4320322749","display_name":"Funda\u00e7\u00e3o Carlos Chagas Filho de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro","ror":"https://ror.org/03kk0s825"},{"id":"https://openalex.org/F4320325035","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7203733990.pdf","grobid_xml":"https://content.openalex.org/works/W7203733990.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W1982105873","https://openalex.org/W2020382129","https://openalex.org/W2041430419","https://openalex.org/W2073170002","https://openalex.org/W2115350520","https://openalex.org/W2131044028","https://openalex.org/W2138850453","https://openalex.org/W2146657801","https://openalex.org/W2152959650","https://openalex.org/W2214339374","https://openalex.org/W2309021002","https://openalex.org/W2520527860","https://openalex.org/W2556416067","https://openalex.org/W2585589460","https://openalex.org/W2894788008","https://openalex.org/W3159129571","https://openalex.org/W3166036810","https://openalex.org/W4297900532","https://openalex.org/W4317360193","https://openalex.org/W4382203090","https://openalex.org/W4399107505","https://openalex.org/W4400235546","https://openalex.org/W4401560193","https://openalex.org/W4402332564","https://openalex.org/W4405495773","https://openalex.org/W4412957631"],"related_works":["https://openalex.org/W4317360193","https://openalex.org/W4308132915","https://openalex.org/W2146657801","https://openalex.org/W6922256885","https://openalex.org/W4401560193","https://openalex.org/W2151956915","https://openalex.org/W4313585145","https://openalex.org/W1990253327","https://openalex.org/W4200035317","https://openalex.org/W4405495773"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Pheochromocytomas":[2],"and":[3,35,45,82,91,99,109,138,147],"paragangliomas":[4,61,81],"(PPGLs)":[5],"are":[6,23],"highly":[7],"heritable":[8],"neuroendocrine":[9],"tumors":[10,95],"frequently":[11],"associated":[12],"with":[13,60,85,114],"germline":[14,66],"pathogenic":[15],"variants":[16],"in":[17,41,136],"SDHB.":[18],"Although":[19],"large":[20],"SDHB":[21,67],"deletions":[22],"rare":[24],"worldwide,":[25],"a":[26,49,122],"recurrent":[27],"15,678":[28],"bp":[29],"deletion":[30,70,135],"encompassing":[31],"the":[32,42,63,86,115,130],"promoter":[33],"region":[34],"exon":[36,68],"1":[37,69],"has":[38],"been":[39],"described":[40],"Iberian":[43,118],"Peninsula":[44],"Latin":[46],"America,":[47],"suggesting":[48],"founder":[50,119],"effect.":[51],"Findings":[52],"We":[53],"report":[54],"three":[55],"apparently":[56],"unrelated":[57],"Brazilian":[58],"patients":[59],"carrying":[62],"same":[64],"heterozygous":[65],"(NM_003000.3:":[71],"c.1-10413_73-3866del;":[72],"g.17043962_17059585del).":[73],"Clinical":[74],"presentation":[75],"was":[76],"heterogeneous,":[77],"including":[78],"early-onset":[79],"secretory":[80],"one":[83],"patient":[84],"3P":[87],"association":[88],"(pheochromocytoma,":[89],"paraganglioma,":[90],"pituitary":[92],"adenoma).":[93],"All":[94],"were":[96],"surgically":[97],"treated,":[98],"long-term":[100,148],"follow-up":[101],"showed":[102],"favorable":[103],"outcomes":[104],"without":[105],"metastatic":[106],"disease.":[107],"Breakpoint":[108],"haplotype":[110],"analyses":[111],"confirmed":[112],"identity":[113],"previously":[116],"reported":[117],"variant,":[120],"supporting":[121],"shared":[123],"ancestral":[124],"origin.":[125],"Conclusion":[126],"These":[127],"findings":[128],"reinforce":[129],"high":[131],"prevalence":[132],"of":[133],"this":[134],"Brazil":[137],"its":[139],"relevance":[140],"for":[141],"targeted":[142],"genetic":[143],"testing,":[144],"family":[145],"screening,":[146],"surveillance":[149],"strategies.":[150]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-08-20T00:00:00"}