{"id":"https://openalex.org/W2043183294","doi":"https://doi.org/10.1590/s0004-27302002000400017","title":"Bases Moleculares da Hiperplasia Adrenal Cong\u00eanita","display_name":"Bases Moleculares da Hiperplasia Adrenal Cong\u00eanita","publication_year":2002,"publication_date":"2002-08-01","ids":{"openalex":"https://openalex.org/W2043183294","doi":"https://doi.org/10.1590/s0004-27302002000400017","mag":"2043183294"},"language":"pt","primary_location":{"id":"doi:10.1590/s0004-27302002000400017","doi":"https://doi.org/10.1590/s0004-27302002000400017","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-27302002000400017","pdf_url":"https://www.scielo.br/j/abem/a/Kxc4bmsNVfFyb7LtwGsN5Yt/?lang=pt&format=pdf","source":{"id":"https://openalex.org/S15262226","display_name":"Arquivos Brasileiros de Endocrinologia & Metabologia","issn_l":"0004-2730","issn":["0004-2730","1677-9487"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310319680","host_organization_name":"Editora da Universidade de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/P4310319680"],"host_organization_lineage_names":["Editora da Universidade de S\u00e3o Paulo"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp; Metabologia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.scielo.br/j/abem/a/Kxc4bmsNVfFyb7LtwGsN5Yt/?lang=pt&format=pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5074963120","display_name":"Maricilda Palandi de Mello","orcid":"https://orcid.org/0000-0003-0521-9100","observed_orcids":["https://orcid.org/0000-0003-0521-9100"]},"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/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]},{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Maricilda Pallandi de Mello","raw_affiliation_strings":["UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I181391015","https://openalex.org/I88273585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006458704","display_name":"T\u00e2nia A.S.S. Bachega","orcid":"https://orcid.org/0000-0002-5219-3153","observed_orcids":["https://orcid.org/0000-0002-5219-3153"]},"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/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]},{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"T\u00e2nia A.S.S. Bachega","raw_affiliation_strings":["UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I181391015","https://openalex.org/I88273585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002636348","display_name":"Mariv\u00e2nia Costa\u2010Santos","orcid":null,"observed_orcids":[]},"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/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]},{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Mariv\u00e2nia da Costa-Santos","raw_affiliation_strings":["UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I181391015","https://openalex.org/I88273585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081168689","display_name":"L\u00edvia M. Mermejo","orcid":"https://orcid.org/0000-0001-6744-9441","observed_orcids":["https://orcid.org/0000-0001-6744-9441","https://orcid.org/0000-0002-9530-9064"]},"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/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]},{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"L\u00edvia Mara Mermejo","raw_affiliation_strings":["UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I181391015","https://openalex.org/I88273585"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040413261","display_name":"Margaret de Castro","orcid":"https://orcid.org/0000-0003-4932-4623","observed_orcids":["https://orcid.org/0000-0003-4932-4623"]},"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/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]},{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Margaret de Castro","raw_affiliation_strings":["UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UNICAMP; FMUSP; Universidade Federal de S\u00e3o Paulo; USP","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I181391015","https://openalex.org/I88273585"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3131,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.62927054,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"46","issue":"4","first_page":"457","last_page":"477"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.7656000256538391,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.7656000256538391,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.2152000069618225,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11839","display_name":"Hormonal Regulation and Hypertension","score":0.008100000210106373,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/congenital-adrenal-hyperplasia","display_name":"congenital adrenal hyperplasia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/21-hydroxylase-deficiency","display_name":"21-hydroxylase deficiency","score":0.9079999923706055},{"id":"https://openalex.org/keywords/cyp21","display_name":"CYP21","score":0.9599999785423279},{"id":"https://openalex.org/keywords/cyp11b1","display_name":"CYP11B1","score":0.8679999709129333},{"id":"https://openalex.org/keywords/11beta-hydroxylase-deficiency","display_name":"11beta-hydroxylase deficiency","score":0.9229999780654907},{"id":"https://openalex.org/keywords/cyp17","display_name":"CYP17","score":0.9779999852180481},{"id":"https://openalex.org/keywords/17-alpha-hydroxylase-deficiency","display_name":"17-hydroxylase deficiency","score":0.9570000171661377},{"id":"https://openalex.org/keywords/hsd3b2","display_name":"HSD3B2","score":0.925000011920929},{"id":"https://openalex.org/keywords/3beta-hydroxysteroid-dehydrogenase-deficiency","display_name":"3\u03b2-hydroxysteroid dehydrogenase deficiency","score":0.9319999814033508},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7329999804496765},{"id":"https://openalex.org/keywords/gene-conversion","display_name":"gene conversion","score":0.3799999952316284},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.43700000643730164},{"id":"https://openalex.org/keywords/cortisol-production","display_name":"cortisol production","score":0.45500001311302185},{"id":"https://openalex.org/keywords/aldosterone-deficiency","display_name":"aldosterone deficiency","score":0.7009999752044678}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6802578568458557},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5147662162780762},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5090531706809998},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.29386359453201294}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1590/s0004-27302002000400017","doi":"https://doi.org/10.1590/s0004-27302002000400017","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-27302002000400017","pdf_url":"https://www.scielo.br/j/abem/a/Kxc4bmsNVfFyb7LtwGsN5Yt/?lang=pt&format=pdf","source":{"id":"https://openalex.org/S15262226","display_name":"Arquivos Brasileiros de Endocrinologia & Metabologia","issn_l":"0004-2730","issn":["0004-2730","1677-9487"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310319680","host_organization_name":"Editora da Universidade de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/P4310319680"],"host_organization_lineage_names":["Editora da Universidade de S\u00e3o Paulo"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp; Metabologia","raw_type":"journal-article"},{"id":"pmh:oai:repositorio.unicamp.br:REPOSIP/9172","doi":null,"is_oa":true,"landing_page_url":"http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/9172","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"SciELO","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:americanae.aecid.es:3217536","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302002000400017","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"SciELO","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:scielo:S0004-27302002000400017","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.br/scielo.php?script=sci_arttext&amp;pid=S0004-27302002000400017","pdf_url":null,"source":{"id":"https://openalex.org/S4306402308","display_name":"The Scientific Electronic Library Online (Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210116822","host_organization_name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/I4210116822"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp;amp; Metabologia v.46 n.4 2002","raw_type":"info:eu-repo/semantics/other"}],"best_oa_location":{"id":"doi:10.1590/s0004-27302002000400017","doi":"https://doi.org/10.1590/s0004-27302002000400017","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-27302002000400017","pdf_url":"https://www.scielo.br/j/abem/a/Kxc4bmsNVfFyb7LtwGsN5Yt/?lang=pt&format=pdf","source":{"id":"https://openalex.org/S15262226","display_name":"Arquivos Brasileiros de Endocrinologia & Metabologia","issn_l":"0004-2730","issn":["0004-2730","1677-9487"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310319680","host_organization_name":"Editora da Universidade de S\u00e3o Paulo","host_organization_lineage":["https://openalex.org/P4310319680"],"host_organization_lineage_names":["Editora da Universidade de S\u00e3o Paulo"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos Brasileiros de Endocrinologia &amp; Metabologia","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2043183294.pdf","grobid_xml":"https://content.openalex.org/works/W2043183294.grobid-xml"},"referenced_works_count":138,"referenced_works":["https://openalex.org/W107679361","https://openalex.org/W198141007","https://openalex.org/W273486950","https://openalex.org/W1506991490","https://openalex.org/W1534922012","https://openalex.org/W1548002397","https://openalex.org/W1550483122","https://openalex.org/W1551857288","https://openalex.org/W1556798853","https://openalex.org/W1563095952","https://openalex.org/W1891290471","https://openalex.org/W1891933871","https://openalex.org/W1930503635","https://openalex.org/W1963545612","https://openalex.org/W1963680434","https://openalex.org/W1964331183","https://openalex.org/W1965651949","https://openalex.org/W1967610905","https://openalex.org/W1971539282","https://openalex.org/W1973542808","https://openalex.org/W1975956577","https://openalex.org/W1976152306","https://openalex.org/W1976624534","https://openalex.org/W1976635712","https://openalex.org/W1979882247","https://openalex.org/W1982754207","https://openalex.org/W1984481957","https://openalex.org/W1985858914","https://openalex.org/W1986014151","https://openalex.org/W1989630204","https://openalex.org/W1990828495","https://openalex.org/W1992402111","https://openalex.org/W1994212220","https://openalex.org/W1994382260","https://openalex.org/W1995802297","https://openalex.org/W1996189747","https://openalex.org/W1999179544","https://openalex.org/W1999587115","https://openalex.org/W2000026908","https://openalex.org/W2002730596","https://openalex.org/W2006006146","https://openalex.org/W2006346558","https://openalex.org/W2006815517","https://openalex.org/W2007165067","https://openalex.org/W2007954658","https://openalex.org/W2009171567","https://openalex.org/W2009655556","https://openalex.org/W2010143253","https://openalex.org/W2012336151","https://openalex.org/W2012390070","https://openalex.org/W2014696401","https://openalex.org/W2017103593","https://openalex.org/W2018666546","https://openalex.org/W2019650300","https://openalex.org/W2022711133","https://openalex.org/W2025408018","https://openalex.org/W2025452617","https://openalex.org/W2025635529","https://openalex.org/W2025647465","https://openalex.org/W2025783865","https://openalex.org/W2027078816","https://openalex.org/W2027948478","https://openalex.org/W2033023610","https://openalex.org/W2033342330","https://openalex.org/W2034404775","https://openalex.org/W2034575919","https://openalex.org/W2035956286","https://openalex.org/W2038495289","https://openalex.org/W2039485647","https://openalex.org/W2039694381","https://openalex.org/W2039945010","https://openalex.org/W2041534377","https://openalex.org/W2041567083","https://openalex.org/W2043757280","https://openalex.org/W2045290708","https://openalex.org/W2046281962","https://openalex.org/W2047406484","https://openalex.org/W2048523195","https://openalex.org/W2050441756","https://openalex.org/W2054920981","https://openalex.org/W2059212079","https://openalex.org/W2059566069","https://openalex.org/W2059708085","https://openalex.org/W2060930388","https://openalex.org/W2064361691","https://openalex.org/W2065340102","https://openalex.org/W2070818730","https://openalex.org/W2077140805","https://openalex.org/W2077483112","https://openalex.org/W2077746313","https://openalex.org/W2077894644","https://openalex.org/W2080058892","https://openalex.org/W2082632137","https://openalex.org/W2082760619","https://openalex.org/W2083432706","https://openalex.org/W2083909817","https://openalex.org/W2086382523","https://openalex.org/W2087018701","https://openalex.org/W2090110123","https://openalex.org/W2090743280","https://openalex.org/W2101132059","https://openalex.org/W2103133230","https://openalex.org/W2107935382","https://openalex.org/W2112462030","https://openalex.org/W2115296460","https://openalex.org/W2120215340","https://openalex.org/W2126733133","https://openalex.org/W2127765038","https://openalex.org/W2129876849","https://openalex.org/W2130071672","https://openalex.org/W2136070934","https://openalex.org/W2140170947","https://openalex.org/W2144143213","https://openalex.org/W2144874144","https://openalex.org/W2145679389","https://openalex.org/W2148614804","https://openalex.org/W2151856290","https://openalex.org/W2156262209","https://openalex.org/W2156839460","https://openalex.org/W2157020561","https://openalex.org/W2160593460","https://openalex.org/W2170855066","https://openalex.org/W2170926281","https://openalex.org/W2311196459","https://openalex.org/W2313451778","https://openalex.org/W2316611343","https://openalex.org/W2317239176","https://openalex.org/W2318908586","https://openalex.org/W2336538138","https://openalex.org/W2339468369","https://openalex.org/W2396881042","https://openalex.org/W2407009898","https://openalex.org/W2409793178","https://openalex.org/W2725292531","https://openalex.org/W4233610788","https://openalex.org/W4242249876","https://openalex.org/W4245143334","https://openalex.org/W6831487070"],"related_works":["https://openalex.org/W4366998327","https://openalex.org/W7114942506","https://openalex.org/W3025914767","https://openalex.org/W2765905770","https://openalex.org/W2595770690","https://openalex.org/W2530259011","https://openalex.org/W1499509612","https://openalex.org/W7220058907","https://openalex.org/W6982199535","https://openalex.org/W2971400855"],"abstract_inverted_index":{"Hiperplasia":[0],"adrenal":[1],"cong\u00eanita":[2],"(HAC)":[3],"\u00e9":[4,43,163,194],"uma":[5,153,172],"doen\u00e7a":[6],"autoss\u00f4mica":[7],"recessiva":[8],"decorrente":[9],"da":[10,16,55,59,131,225,227],"altera\u00e7\u00e3o":[11],"de":[12,37,67,114,161,181,188,192],"enzimas":[13],"que":[14,72,89,135,151,170,201],"participam":[15],"s\u00edntese":[17],"do":[18,27],"cortisol.":[19],"As":[20],"manifesta\u00e7\u00f5es":[21],"podem":[22],"ser":[23],"causadas":[24],"pela":[25],"defici\u00eancia":[26,58,130,160,177,186,191,226],"cortisol":[28],"e,":[29],"em":[30,63],"alguns":[31],"casos,":[32],"aldosterona":[33],"e":[34,79,183,208],"pelo":[35],"ac\u00famulo":[36],"precursores.":[38],"O":[39],"objetivo":[40],"desta":[41],"revis\u00e3o":[42],"apresentar":[44],"os":[45,148],"mecanismos":[46],"moleculares":[47],"dos":[48,65,94,139],"principais":[49],"defeitos":[50],"enzim\u00e1ticos":[51],"envolvidos":[52],"na":[53],"etiopatog\u00eanese":[54],"HAC.":[56,68],"A":[57,159],"21-hidroxilase":[60],"(21OH)":[61],"ocorre":[62],"95%":[64],"casos":[66],"Existem":[69],"dois":[70],"genes":[71],"codificam":[73,171],"o":[74,88,91],"P450c21:":[75],"um":[76,80],"ativo,":[77],"CYP21,":[78],"pseudogene":[81,120],"CYP21P.":[82],"Ambos":[83],"s\u00e3o":[84,143],"altamente":[85],"hom\u00f3logos":[86,96],"(98%),":[87],"favorece":[90],"emparelhamento":[92],"desigual":[93],"cromossomos":[95],"durante":[97],"a":[98,101,137,176,203,216,221],"meiose,":[99],"levando":[100,175],"duplica\u00e7\u00f5es":[102],"e/ou":[103],"dele\u00e7\u00f5es":[104],"ou":[105,179,185],"convers\u00f5es":[106],"desses":[107],"genes.":[108],"Adicionalmente,":[109],"foram":[110],"tamb\u00e9m":[111],"descritas":[112],"muta\u00e7\u00f5es":[113,142,166,197,210],"ponto,":[115],"muitas":[116],"delas":[117],"presentes":[118],"no":[119,124,156,167,198],"sugerindo":[121],"microconvers\u00f5es.":[122],"Muta\u00e7\u00f5es":[123],"gene":[125,157,168,199],"CYP11B1":[126],"causam":[127],"HAC":[128],"por":[129,165,196],"11beta-hidroxilase,":[132],"forma":[133,217,222],"esta":[134],"corresponde":[136],"5%":[138],"casos.":[140],"Algumas":[141],"recorrentes,":[144],"situando-se":[145],"principalmente":[146],"entre":[147],"exons":[149],"6-8":[150],"representaria":[152],"\u00e1rea":[154],"hot-spot":[155],"CYP11B1.":[158],"17-hidroxilase":[162],"causada":[164,195],"CYP17,":[169],"prote\u00edna":[173],"alterada,":[174],"total":[178],"parcial":[180],"17-hidroxila\u00e7\u00e3o":[182],"17,20-liase":[184],"isolada":[187],"17,20-liase.":[189],"Finalmente,":[190],"3beta-HSD":[193,205],"HSD3B2,":[200],"codifica":[202],"enzima":[204],"tipo":[206],"II":[207],"estas":[209],"t\u00eam":[211],"sido":[212],"associadas":[213],"tanto":[214],"com":[215,220],"cl\u00e1ssica":[218,224],"como":[219],"n\u00e3o":[223],"3beta-HSD.":[228]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
