{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:08:46Z","timestamp":1792663726503,"version":"4.5.0"},"reference-count":49,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:00:00Z","timestamp":1696550400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare of Japan","doi-asserted-by":"publisher","award":["No. 20FC1020"],"award-info":[{"award-number":["No. 20FC1020"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["No. 23ek0109630h0001"],"award-info":[{"award-number":["No. 23ek0109630h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Recently developed long-read sequencing (LRS) technology has been considered an option for CYP21A2 analysis. However, the clinical use of LRS for CYP21A2 analysis is limited.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This study's objective is to develop an efficient and low-cost LRS system for CYP21A2 screening.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A DNA fragment library was prepared in a single polymerase chain reaction (PCR) that covers the entire CYP21A2 gene and all known junctions caused by TNXB gene structural rearrangements, yielding a single 8-kb product of CYP21A2 or CYP21A1P\/CYP21A2 chimera. After barcoding, the PCR products were sequenced on a MinION-based platform with Flongle Flow Cell R9.4.1 and R10.4.1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The reference genotypes of 55 patients with 21-hydroxylase deficiency (21OHD) were established using the conventional method with multiplex ligation-dependent probe amplification (MLPA) and nested PCR. LRS using Flongle Flow Cell R9.4.1 yielded consistent results. Additionally, the recently updated LRS \u201cduplex\u201d analysis with Flongle flow cell R10.4.1 was tested to reveal an advantage of accurately sequencing a variant located on the homopolymer region. By introducing a barcode system, the cost was reduced to be comparable to that of conventional analysis. A novel single-nucleotide variation was discovered at the acceptor site of intron 7, c.940-1G &amp;gt; C. We also identified a subtype of the classical chimeric junction CH2, \u201cCH2a,\u201d in the region from the latter part of intron 5 to exon 6.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We successfully established a novel low-cost and highly accurate LRS system for 21OHD genetic analysis. Our study provides insight into the feasibility of LRS for diagnosing 21OHD and other genetic diseases caused by structural rearrangements.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad577","type":"journal-article","created":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T08:34:20Z","timestamp":1696667660000},"page":"750-760","source":"Crossref","is-referenced-by-count":18,"title":["A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-5260-7571","authenticated-orcid":false,"given":"Eriko","family":"Adachi","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuichi","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8226-2618","authenticated-orcid":false,"given":"Atsumi","family":"Tsuji-Hosokawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"},{"name":"Department of Systems BioMedicine, National Research Institute for Child Health and Development , Tokyo 157-8535 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0318-5472","authenticated-orcid":false,"given":"Maki","family":"Gau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shizuka","family":"Kirino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Analia","family":"Yogi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8502-222X","authenticated-orcid":false,"given":"Hisae","family":"Nakatani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-4034","authenticated-orcid":false,"given":"Kei","family":"Takasawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Shinshu University Hospital , Nagano 390-8621 , Japan"},{"name":"Department of Medical Genetics, Shinshu University School of Medicine , Nagano 390-8621 , Japan"},{"name":"Division of Clinical Sequencing, Shinshu University School of Medicine , Nagano 390-8621 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Shinshu University Hospital , Nagano 390-8621 , Japan"},{"name":"Department of Medical Genetics, Shinshu University School of Medicine , Nagano 390-8621 , Japan"},{"name":"Division of Clinical Sequencing, Shinshu University School of Medicine , Nagano 390-8621 , Japan"},{"name":"Research Center for Supports to Advanced Science, Shinshu University , Nagano 390-8621 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5541-3502","authenticated-orcid":false,"given":"Masanori","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Tajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jichi Medical University , Tochigi 329-0498 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University, School of Medicine , Tokyo 160-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9259-1025","authenticated-orcid":false,"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3328-9571","authenticated-orcid":false,"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[{"name":"Department of Applied Genomics, Kazusa DNA Research Institute , Chiba 292-0818 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-5932","authenticated-orcid":false,"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU) , Tokyo 113-8519 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,10,6]]},"reference":[{"issue":"1","key":"2024022001122784500_dgad577-B1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1210\/endrev\/bnab016","article-title":"Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management","volume":"43","author":"Claahsen-van der Grinten","year":"2022","journal-title":"Endocr Rev"},{"issue":"8","key":"2024022001122784500_dgad577-B2","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1056\/NEJMra021561","article-title":"Congenital adrenal hyperplasia","volume":"349","author":"Speiser","year":"2003","journal-title":"N Engl J Med"},{"issue":"3","key":"2024022001122784500_dgad577-B3","first-page":"245","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"21","author":"White","year":"2000","journal-title":"Endocr Rev"},{"issue":"3","key":"2024022001122784500_dgad577-B4","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/0925-6164(94)90022-1","article-title":"Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan","volume":"3","author":"Suwa","year":"1994","journal-title":"Screening"},{"issue":"1","key":"2024022001122784500_dgad577-B5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1186\/s12887-015-0529-y","article-title":"Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study","volume":"15","author":"Tsuji","year":"2015","journal-title":"BMC Pediatr"},{"issue":"17","key":"2024022001122784500_dgad577-B6","doi-asserted-by":"crossref","first-page":"12147","DOI":"10.1074\/jbc.274.17.12147","article-title":"Modular variations of the human major histocompatibility complex class III genes for serine\/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations","volume":"274","author":"Yang","year":"1999","journal-title":"J Biol Chem"},{"issue":"12","key":"2024022001122784500_dgad577-B7","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1084\/jem.191.12.2183","article-title":"Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease","volume":"191","author":"Blanchong","year":"2000","journal-title":"J Exp Med"},{"issue":"1","key":"2024022001122784500_dgad577-B8","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1056\/NEJM198807073190104","article-title":"Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1","volume":"319","author":"Speiser","year":"1988","journal-title":"N Engl J Med"},{"issue":"23","key":"2024022001122784500_dgad577-B9","doi-asserted-by":"crossref","first-page":"7505","DOI":"10.1073\/pnas.81.23.7505","article-title":"HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation","volume":"81","author":"White","year":"1984","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"2024022001122784500_dgad577-B10","first-page":"461","article-title":"Frequent deletion and duplication of the steroid 21-hydroxylase genes","volume":"39","author":"Werkmeister","year":"1986","journal-title":"Am J Hum Genet"},{"issue":"12","key":"2024022001122784500_dgad577-B11","doi-asserted-by":"crossref","first-page":"4436","DOI":"10.1073\/pnas.85.12.4436","article-title":"Characterization of frequent deletions causing steroid 21-hydroxylase deficiency","volume":"85","author":"White","year":"1988","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"22","key":"2024022001122784500_dgad577-B12","doi-asserted-by":"crossref","first-page":"8091","DOI":"10.1073\/pnas.84.22.8091","article-title":"Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia","volume":"84","author":"Harada","year":"1987","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"2024022001122784500_dgad577-B13","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1172\/JCI113562","article-title":"Nonsense mutation causing steroid 21-hydroxylase deficiency","volume":"82","author":"Globerman","year":"1988","journal-title":"J Clin Invest"},{"issue":"7","key":"2024022001122784500_dgad577-B14","doi-asserted-by":"crossref","first-page":"2611","DOI":"10.1073\/pnas.1300057110","article-title":"Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency","volume":"110","author":"New","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"12","key":"2024022001122784500_dgad577-B15","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1038\/gim.2016.58","article-title":"Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing","volume":"18","author":"Mandelker","year":"2016","journal-title":"Genet Med"},{"issue":"16","key":"2024022001122784500_dgad577-B16","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1093\/bioinformatics\/bts330","article-title":"Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score","volume":"28","author":"Lee","year":"2012","journal-title":"Bioinformatics"},{"issue":"1","key":"2024022001122784500_dgad577-B17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.6065\/apem.2016.21.1.1","article-title":"Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"21","author":"Choi","year":"2016","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"2024022001122784500_dgad577-B18","doi-asserted-by":"crossref","first-page":"785570","DOI":"10.3389\/fgene.2022.785570","article-title":"Copy number variations in genetic diagnosis of congenital adrenal hyperplasia children","volume":"13","author":"Tolba","year":"2022","journal-title":"Front Genet"},{"issue":"3","key":"2024022001122784500_dgad577-B19","doi-asserted-by":"crossref","first-page":"263","DOI":"10.3343\/alm.2019.39.3.263","article-title":"Dried blood spot multiplexed steroid profiling using liquid chromatography tandem mass spectrometry in Korean neonates","volume":"39","author":"Choi","year":"2019","journal-title":"Ann Lab Med"},{"issue":"7","key":"2024022001122784500_dgad577-B20","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1373\/clinchem.2011.162230","article-title":"Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics","volume":"57","author":"Concolino","year":"2011","journal-title":"Clin Chem"},{"issue":"5","key":"2024022001122784500_dgad577-B21","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1093\/nar\/gky066","article-title":"Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics","volume":"46","author":"Ardui","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2024022001122784500_dgad577-B22","doi-asserted-by":"crossref","first-page":"716586","DOI":"10.3389\/fgene.2021.716586","article-title":"PB-Motif-A method for identifying gene\/pseudogene rearrangements with long reads: an application to CYP21A2 genotyping","volume":"12","author":"Stephens","year":"2021","journal-title":"Front Genet"},{"issue":"7","key":"2024022001122784500_dgad577-B23","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1093\/clinchem\/hvac046","article-title":"Comprehensive analysis of congenital adrenal hyperplasia using long-read sequencing","volume":"68","author":"Liu","year":"2022","journal-title":"Clin Chem"},{"issue":"1","key":"2024022001122784500_dgad577-B24","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13059-020-02255-1","article-title":"Pair consensus decoding improves accuracy of neural network basecallers for nanopore sequencing","volume":"22","author":"Silvestre-Ryan","year":"2021","journal-title":"Genome Biol"},{"issue":"3","key":"2024022001122784500_dgad577-B25","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1373\/clinchem.2010.156893","article-title":"Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia","volume":"57","author":"Canturk","year":"2011","journal-title":"Clin Chem"},{"key":"2024022001122784500_dgad577-B26","article-title":"Supplymetary material to \u201cApplication of MinION-based long-read sequencing with one-step PCR for the genetic diagnosis of 21-hydroxylase deficiency\u201d","author":"Adachi","year":"2023","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2024022001122784500_dgad577-B27","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s13059-019-1727-y","article-title":"Performance of neural network basecalling tools for Oxford nanopore sequencing","volume":"20","author":"Wick","year":"2019","journal-title":"Genome Biol"},{"issue":"18","key":"2024022001122784500_dgad577-B28","doi-asserted-by":"crossref","first-page":"3094","DOI":"10.1093\/bioinformatics\/bty191","article-title":"Minimap2: pairwise alignment for nucleotide sequences","volume":"34","author":"Li","year":"2018","journal-title":"Bioinformatics"},{"issue":"16","key":"2024022001122784500_dgad577-B29","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"1","key":"2024022001122784500_dgad577-B30","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat Biotechnol"},{"issue":"1","key":"2024022001122784500_dgad577-B31","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/humu.23351","article-title":"CYP21A2 Mutation update: comprehensive analysis of databases and published genetic variants","volume":"39","author":"Simonetti","year":"2018","journal-title":"Hum Mutat"},{"issue":"11","key":"2024022001122784500_dgad577-B32","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1038\/s41587-021-01108-x","article-title":"Nanopore sequencing technology, bioinformatics and applications","volume":"39","author":"Wang","year":"2021","journal-title":"Nat Biotechnol"},{"key":"2024022001122784500_dgad577-B33","doi-asserted-by":"crossref","first-page":"803226","DOI":"10.3389\/fendo.2022.803226","article-title":"Congenital adrenal hyperplasia and Ehlers-Danlos syndrome","volume":"13","author":"Marino","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"7","key":"2024022001122784500_dgad577-B34","doi-asserted-by":"crossref","first-page":"e2195","DOI":"10.1002\/mgg3.2195","article-title":"Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P\/CYP21A2 chimera","volume":"11","author":"Lao","year":"2023","journal-title":"Mol Genet Genomic Med"},{"issue":"13","key":"2024022001122784500_dgad577-B35","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1056\/NEJMra1909786","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"383","author":"Merke","year":"2020","journal-title":"N Engl J Med"},{"issue":"5","key":"2024022001122784500_dgad577-B36","doi-asserted-by":"crossref","first-page":"e623","DOI":"10.1002\/mgg3.623","article-title":"Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia","volume":"7","author":"Chi","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"2024022001122784500_dgad577-B37","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1210\/jc.2009-1202","article-title":"Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier","volume":"95","author":"Tardy","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2024022001122784500_dgad577-B38","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s100380200077","article-title":"Structural analysis of the chimeric CYP21P\/CYP21 gene in steroid 21-hydroxylase deficiency","volume":"47","author":"Lee","year":"2002","journal-title":"J Hum Genet"},{"issue":"2","key":"2024022001122784500_dgad577-B39","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1373\/clinchem.2011.174037","article-title":"Junction site analysis of chimeric CYP21A1P\/CYP21A2 genes in 21-hydroxylase deficiency","volume":"58","author":"Chen","year":"2012","journal-title":"Clin Chem"},{"key":"2024022001122784500_dgad577-B40","doi-asserted-by":"crossref","first-page":"106156","DOI":"10.1016\/j.jsbmb.2022.106156","article-title":"Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"222","author":"Xia","year":"2022","journal-title":"J Steroid Biochem Mol Biol"},{"issue":"2","key":"2024022001122784500_dgad577-B41","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.jfma.2017.03.008","article-title":"Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening","volume":"117","author":"Liu","year":"2018","journal-title":"J Formos Med Assoc"},{"issue":"4","key":"2024022001122784500_dgad577-B42","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.ymgme.2006.12.005","article-title":"Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency","volume":"90","author":"Wilson","year":"2007","journal-title":"Mol Genet Metab"},{"issue":"6","key":"2024022001122784500_dgad577-B43","doi-asserted-by":"crossref","first-page":"2668","DOI":"10.1210\/jcem.87.6.8522","article-title":"Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21","volume":"87","author":"Koyama","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2024022001122784500_dgad577-B44","doi-asserted-by":"crossref","first-page":"4043","DOI":"10.1210\/jc.2018-01865","article-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline","volume":"103","author":"Speiser","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2024022001122784500_dgad577-B45","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1297\/cpe.2022-0009","article-title":"Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)","volume":"31","author":"Ishii","year":"2022","journal-title":"Clin Pediatr Endocrinol"},{"issue":"9","key":"2024022001122784500_dgad577-B46","doi-asserted-by":"crossref","first-page":"3520","DOI":"10.1210\/JC.2015-2093","article-title":"Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study","volume":"100","author":"Falhammar","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2024022001122784500_dgad577-B47","doi-asserted-by":"crossref","first-page":"E2715","DOI":"10.1210\/jc.2014-2957","article-title":"Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"99","author":"Falhammar","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2024022001122784500_dgad577-B48","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1530\/EJE-21-0395","article-title":"Rationale of a lower dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling","volume":"185","author":"Stachanow","year":"2021","journal-title":"Eur J Endocrinol"},{"issue":"10","key":"2024022001122784500_dgad577-B49","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1038\/s41431-020-0653-5","article-title":"EMQN Best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency","volume":"28","author":"Baumgartner-Parzer","year":"2020","journal-title":"Eur J Hum Genet"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgad577\/52186030\/dgad577.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/3\/750\/56680781\/dgad577.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/3\/750\/56680781\/dgad577.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T01:15:11Z","timestamp":1708391711000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/109\/3\/750\/7296056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,6]]},"references-count":49,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,10,6]]},"published-print":{"date-parts":[[2024,2,20]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgad577","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,3]]},"published":{"date-parts":[[2023,10,6]]}}}