{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T21:36:57Z","timestamp":1793223417730,"version":"4.5.0"},"reference-count":98,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T00:00:00Z","timestamp":1702425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["thelancet.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["eBioMedicine"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.ebiom.2023.104941","type":"journal-article","created":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T16:51:06Z","timestamp":1704127866000},"page":"104941","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"special_numbering":"C","title":["Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1\/SF-1 variants of sex development"],"prefix":"10.1016","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7225-593X","authenticated-orcid":false,"given":"Chrysanthi","family":"Kouri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grit","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Idoia","family":"Martinez de Lapiscina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawda Naamneh","family":"Elzenaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lloyd J.W.","family":"Tack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Cools","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Faisal","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4568-5504","authenticated-orcid":false,"given":"Christa E.","family":"Fl\u00fcck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saygin","family":"Abali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra Yavas","family":"Abali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Akin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricruz","family":"Almaraz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Aud\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Aydin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Balsamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Baronio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian","family":"Bryce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanetee","family":"Busiah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Caimari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00faria","family":"Camats-Tarruella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadna","family":"Campos-Martorell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Caster\u00e0s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"\u00c7etinkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yee-Ming","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedi L.","family":"Claahsen-van der Grinten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Feyza","family":"Darendeliler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin H.","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Esteva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Fabbri-Scallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney A.","family":"Finlayson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Garcia Cuartero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"German","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Globa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra-Junior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Guerrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tulay","family":"Guran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine E.","family":"Hannema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine","family":"Hirsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leuan","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Janner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia","family":"Kolesinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lachlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lauber-Biason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana Krenek","family":"Malikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"l'Allemand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Lenhnerr-Taube","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Lucas-Herald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamala","family":"Mammadova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"M\u0441Elreavey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Mericq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"M\u00f6nig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"M\u00fchrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Niedziela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Nordenstrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bur\u00e7e","family":"Orman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukran","family":"Poyrazoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M.","family":"Rial","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilan M.","family":"Rutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaia","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Schafer-Kalkhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay-Sara","family":"Sauter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumudu Nimali","family":"Seneviratne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Sredkova-Ruskova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rieko","family":"Tadokoro-Cuccaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Thankamony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Tom\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaia","family":"Vela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata","family":"Wasniewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Zangen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nataliya","family":"Zelinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"7","key":"10.1016\/j.ebiom.2023.104941_bib1","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1210\/me.2009-0519","article-title":"Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease","volume":"24","author":"Schimmer","year":"2010","journal-title":"Mol Endocrinol"},{"issue":"7","key":"10.1016\/j.ebiom.2023.104941_bib2","first-page":"852","article-title":"Characterization of the mouse FTZ-F1 gene, which encodes a key regulator of steroid hydroxylase gene expression","volume":"7","author":"Ikeda","year":"1993","journal-title":"Mol Endocrinol"},{"issue":"25","key":"10.1016\/j.ebiom.2023.104941_bib3","doi-asserted-by":"crossref","first-page":"17913","DOI":"10.1016\/S0021-9258(19)37129-7","article-title":"A\u00a0common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s","volume":"267","author":"Morohashi","year":"1992","journal-title":"J\u00a0Biol Chem"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib4","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/0092-8674(94)90211-9","article-title":"A\u00a0cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation","volume":"77","author":"Luo","year":"1994","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib5","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/aja.1002040104","article-title":"Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice","volume":"204","author":"Shinoda","year":"1995","journal-title":"Dev Dynam"},{"issue":"24","key":"10.1016\/j.ebiom.2023.104941_bib6","doi-asserted-by":"crossref","first-page":"10939","DOI":"10.1073\/pnas.92.24.10939","article-title":"Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids","volume":"92","author":"Sadovsky","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib7","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/S1043-2760(98)00142-8","article-title":"Gonadal and extragonadal functions of Ad4BP\/SF-1: developmental aspects","volume":"10","author":"Morohashi","year":"1999","journal-title":"Trends Endocrinol Metabol"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/9629","article-title":"A\u00a0mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans","volume":"22","author":"Achermann","year":"1999","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib9","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/humu.23916","article-title":"Mutation update for the NR5A1 gene involved in DSD and infertility","volume":"41","author":"Fabbri-Scallet","year":"2020","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib10","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/bdrc.21145","article-title":"Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals","volume":"108","author":"Domenice","year":"2016","journal-title":"Birth Defects Res C Embryo Today"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib11","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/gim.2016.118","article-title":"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development","volume":"19","author":"Baetens","year":"2017","journal-title":"Genet Med"},{"issue":"12","key":"10.1016\/j.ebiom.2023.104941_bib12","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1056\/NEJMoa0806228","article-title":"Mutations in NR5A1 associated with ovarian insufficiency","volume":"360","author":"Louren\u00e7o","year":"2009","journal-title":"N\u00a0Engl J Med"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib13","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.ajhg.2010.09.009","article-title":"Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1","volume":"87","author":"Bashamboo","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.ebiom.2023.104941_bib14","doi-asserted-by":"crossref","first-page":"E1294","DOI":"10.1210\/jc.2011-3169","article-title":"Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals","volume":"97","author":"Camats","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib15","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.beem.2015.07.004","article-title":"DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease","volume":"29","author":"Suntharalingham","year":"2015","journal-title":"Best Pract Res Clin Endocrinol Metabol"},{"issue":"9","key":"10.1016\/j.ebiom.2023.104941_bib16","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1038\/s41431-018-0202-7","article-title":"Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?","volume":"26","author":"Camats","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib17","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0176720","article-title":"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis","volume":"12","author":"Werner","year":"2017","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib18","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/cge.12957","article-title":"SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management","volume":"92","author":"Colson","year":"2017","journal-title":"Clin Genet"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib19","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1172\/JCI73186","article-title":"Testicular differentiation factor SF-1 is required for human spleen development","volume":"124","author":"Zangen","year":"2014","journal-title":"J\u00a0Clin Invest"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib20","first-page":"1586","article-title":"Structural and functional abnormalities in the spleen of an mFtz-F1 gene-disrupted mouse","volume":"93","author":"Morohashi","year":"1999","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib21","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1210\/jc.2003-031240","article-title":"A\u00a0microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency","volume":"89","author":"Correa","year":"2004","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib22","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1210\/endo.143.2.8652","article-title":"Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity","volume":"143","author":"Majdic","year":"2002","journal-title":"Endocrinology"},{"issue":"8","key":"10.1016\/j.ebiom.2023.104941_bib23","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0104838","article-title":"Human NR5A1\/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis","volume":"9","author":"Malikova","year":"2014","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.ebiom.2023.104941_bib24","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human gene mutation database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum Mutat"},{"issue":"1\u20132","key":"10.1016\/j.ebiom.2023.104941_bib25","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.mce.2010.11.006","article-title":"Steroidogenic factor-1 (SF-1, NR5A1) and human disease","volume":"336","author":"Ferraz-de-Souza","year":"2011","journal-title":"Mol Cell Endocrinol"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib26","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/humu.23354","article-title":"Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development","volume":"39","author":"Robevska","year":"2018","journal-title":"Hum Mutat"},{"issue":"22","key":"10.1016\/j.ebiom.2023.104941_bib27","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21228554","article-title":"Variants of STAR, AMH and ZFPM2\/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1","volume":"21","author":"Mart\u00ednez de LaPiscina","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"6","key":"10.1016\/j.ebiom.2023.104941_bib28","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1086\/316893","article-title":"Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1\/SF-1) and adrenocortical insufficiency","volume":"67","author":"Biason-Lauber","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ebiom.2023.104941_bib29","first-page":"1","article-title":"11th international meeting of paediatric endocrinology (IMPE) - abstracts","volume":"Suppl 2","year":"2023","journal-title":"Horm Res Paediatr"},{"issue":"12","key":"10.1016\/j.ebiom.2023.104941_bib30","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1002\/humu.23603","article-title":"Mutant NR5A1\/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer","volume":"39","author":"Sreenivasan","year":"2018","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib31","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000519691","article-title":"Oligogenic causes of human differences of sex development: facing the challenge of genetic complexity","volume":"96","author":"Kouri","year":"2021","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.ebiom.2023.104941_bib32","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.900574","article-title":"Novel genomic variants, atypical phenotypes and evidence of a digenic\/oligogenic contribution to disorders\/differences of sex development in a large north African cohort","volume":"13","author":"Zidoune","year":"2022","journal-title":"Front Genet"},{"key":"10.1016\/j.ebiom.2023.104941_bib33","doi-asserted-by":"crossref","first-page":"746","DOI":"10.3389\/fgene.2019.00746","article-title":"Broad phenotypes of disorders\/differences of sex development in MAMLD1 patients through oligogenic disease","volume":"10","author":"Fl\u00fcck","year":"2019","journal-title":"Front Genet"},{"issue":"34","key":"10.1016\/j.ebiom.2023.104941_bib34","doi-asserted-by":"crossref","first-page":"15140","DOI":"10.1073\/pnas.1009622107","article-title":"Oligogenic basis of isolated gonadotropin-releasing hormone deficiency","volume":"107","author":"Sykiotis","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"9","key":"10.1016\/j.ebiom.2023.104941_bib35","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment","volume":"11","author":"Boehm","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"10","key":"10.1016\/j.ebiom.2023.104941_bib36","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/nrg910","article-title":"Beyond Mendel: an evolving view of human genetic disease transmission","volume":"3","author":"Badano","year":"2002","journal-title":"Nat Rev Genet"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib37","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.3390\/ijms21051809","article-title":"Oligogenic origin of differences of sex development in humans","volume":"21","author":"Camats","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib38","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/cen.14614","article-title":"Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development","volume":"96","author":"Tack","year":"2022","journal-title":"Clin Endocrinol"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib39","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1530\/EJE-20-1249","article-title":"International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry","volume":"184","author":"Bacila","year":"2021","journal-title":"Eur J Endocrinol"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib40","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000517055","article-title":"Surgical practice in girls with congenital adrenal hyperplasia: an international registry study","volume":"15","author":"Hebenstreit","year":"2021","journal-title":"Sex Dev"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib41","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1530\/EJE-19-0363","article-title":"Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet","volume":"181","author":"Fl\u00fcck","year":"2019","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ebiom.2023.104941_bib42","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbi.2019.103208","article-title":"The REDCap consortium: building an international community of software platform partners","volume":"95","author":"Harris","year":"2019","journal-title":"J\u00a0Biomed Inform"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib43","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J\u00a0Biomed Inform"},{"issue":"D1","key":"10.1016\/j.ebiom.2023.104941_bib44","doi-asserted-by":"crossref","first-page":"D1207","DOI":"10.1093\/nar\/gkaa1043","article-title":"The human phenotype Ontology in 2021","volume":"49","author":"K\u00f6hler","year":"2020","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib45","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.ajhg.2009.09.003","article-title":"Clinical diagnostics in human genetics with semantic similarity searches in ontologies","volume":"85","author":"K\u00f6hler","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib46","doi-asserted-by":"crossref","first-page":"e222","DOI":"10.1210\/clinem\/dgz142","article-title":"The external genitalia score (EGS): a European multicenter validation study","volume":"105","author":"van der Straaten","year":"2019","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"11","key":"10.1016\/j.ebiom.2023.104941_bib47","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104941_bib48","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum Genet"},{"issue":"W1","key":"10.1016\/j.ebiom.2023.104941_bib50","doi-asserted-by":"crossref","first-page":"W93","DOI":"10.1093\/nar\/gkz437","article-title":"ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations","volume":"47","author":"Renaux","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"9946","key":"10.1016\/j.ebiom.2023.104941_bib51","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/S0140-6736(14)60932-6","article-title":"International standards for newborn weight, length, and head circumference by gestational age and sex: the Newborn Cross-Sectional Study of the INTERGROWTH-21st Project","volume":"384","author":"Villar","year":"2014","journal-title":"Lancet"},{"issue":"9","key":"10.1016\/j.ebiom.2023.104941_bib52","doi-asserted-by":"crossref","first-page":"660","DOI":"10.2471\/BLT.07.043497","article-title":"Development of a WHO growth reference for school-aged children and adolescents","volume":"85","author":"de Onis","year":"2007","journal-title":"Bull World Health Organ"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib53","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1186\/s13059-016-1105-y","article-title":"Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort","volume":"17","author":"Eggers","year":"2016","journal-title":"Genome Biol"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib54","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.3390\/ijms22031264","article-title":"Complete androgen insensitivity syndrome: from bench to bed","volume":"22","author":"Tyutyusheva","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.ebiom.2023.104941_bib55","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.jsbmb.2016.05.020","article-title":"Steroid 5\u03b1-reductase 2 deficiency","volume":"163","author":"Mendonca","year":"2016","journal-title":"J\u00a0Steroid Biochem Mol Biol"},{"issue":"16","key":"10.1016\/j.ebiom.2023.104941_bib56","doi-asserted-by":"crossref","first-page":"3446","DOI":"10.1093\/hmg\/ddw186","article-title":"A\u00a0recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development","volume":"25","author":"Bashamboo","year":"2016","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.ebiom.2023.104941_bib57","doi-asserted-by":"crossref","DOI":"10.1111\/and.13585","article-title":"A\u00a0missense mutation in NR5A1 causing female to male sex reversal: a case report","volume":"52","author":"Askari","year":"2020","journal-title":"Andrologia"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib58","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/humu.23116","article-title":"Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues","volume":"38","author":"Igarashi","year":"2017","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib59","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.23672","article-title":"NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients","volume":"40","author":"Knarston","year":"2019","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib60","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1210\/jc.2015-3250","article-title":"Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort","volume":"101","author":"Guran","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"1\u20132","key":"10.1016\/j.ebiom.2023.104941_bib61","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.mce.2009.07.003","article-title":"Molecular aspects of steroidogenic factor 1 (SF-1)","volume":"315","author":"Hoivik","year":"2010","journal-title":"Mol Cell Endocrinol"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib62","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1096\/fj.10-170522","article-title":"ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland","volume":"25","author":"Ferraz-de-Souza","year":"2011","journal-title":"FASEB J"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib63","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1152\/physrev.00019.2018","article-title":"The orphan nuclear receptors steroidogenic factor-1 and liver receptor homolog-1: structure, regulation, and essential roles in mammalian reproduction","volume":"99","author":"Meinsohn","year":"2019","journal-title":"Physiol Rev"},{"issue":"8","key":"10.1016\/j.ebiom.2023.104941_bib64","doi-asserted-by":"crossref","first-page":"3261","DOI":"10.1210\/jc.2007-0494","article-title":"Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis","volume":"92","author":"Xue","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib65","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/S1097-2765(00)80480-3","article-title":"Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress","volume":"3","author":"Hammer","year":"1999","journal-title":"Mol Cell"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib66","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1159\/000445983","article-title":"Identification of NR5A1 mutations and possible digenic inheritance in 46,XY gonadal dysgenesis","volume":"10","author":"Mazen","year":"2016","journal-title":"Sex Dev"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib67","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/ejhg.2014.130","article-title":"Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1","volume":"23","author":"Eggers","year":"2015","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib68","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s00439-018-1879-y","article-title":"Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes","volume":"137","author":"Wang","year":"2018","journal-title":"Hum Genet"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib69","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1159\/000524956","article-title":"Can non-coding NR5A1 gene variants explain phenotypes of disorders of sex development?","volume":"16","author":"Fabbri-Scallet","year":"2022","journal-title":"Sex Dev"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib70","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-019-1127-0","article-title":"Genome sequencing and implications for rare disorders","volume":"14","author":"Posey","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib71","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1530\/EJE-18-0256","article-title":"Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences\/disorders of sex development (DSD): position paper of EU COST Action BM 1303 \u2018DSDnet\u2019","volume":"179","author":"Audi","year":"2018","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib72","doi-asserted-by":"crossref","first-page":"E333","DOI":"10.1210\/jc.2014-2605","article-title":"Exome sequencing for the diagnosis of 46,XY disorders of sex development","volume":"100","author":"Baxter","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"18","key":"10.1016\/j.ebiom.2023.104941_bib73","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1001\/jama.2014.14604","article-title":"Clinical exome sequencing for genetic identification of rare Mendelian disorders","volume":"312","author":"Lee","year":"2014","journal-title":"JAMA"},{"issue":"24","key":"10.1016\/j.ebiom.2023.104941_bib74","doi-asserted-by":"crossref","first-page":"11878","DOI":"10.1073\/pnas.1815601116","article-title":"Predicting disease-causing variant combinations","volume":"116","author":"Papadimitriou","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib75","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1210\/jc.2006-1672","article-title":"Heterozygous missense mutations in steroidogenic factor 1 (SF1\/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function","volume":"92","author":"Lin","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"12","key":"10.1016\/j.ebiom.2023.104941_bib76","doi-asserted-by":"crossref","first-page":"3255","DOI":"10.1093\/humrep\/dem278","article-title":"Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study","volume":"22","author":"Philibert","year":"2007","journal-title":"Hum Reprod"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib77","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1677\/jme.0.0280125","article-title":"Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1","volume":"28","author":"Bassett","year":"2002","journal-title":"J\u00a0Mol Endocrinol"},{"issue":"26","key":"10.1016\/j.ebiom.2023.104941_bib78","doi-asserted-by":"crossref","first-page":"14488","DOI":"10.1073\/pnas.97.26.14488","article-title":"Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response","volume":"97","author":"Bland","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib79","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1210\/me.2003-0333","article-title":"Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function","volume":"18","author":"Bland","year":"2004","journal-title":"Mol Endocrinol"},{"issue":"8","key":"10.1016\/j.ebiom.2023.104941_bib80","doi-asserted-by":"crossref","first-page":"3122","DOI":"10.1210\/endo.143.8.8944","article-title":"Steroidogenic factor-1 is essential for compensatory adrenal growth following unilateral adrenalectomy","volume":"143","author":"Beuschlein","year":"2002","journal-title":"Endocrinology"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib81","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1016\/j.ecl.2017.01.015","article-title":"Genetics of disorders of sex development: the DSD-TRN experience","volume":"46","author":"D\u00e9lot","year":"2017","journal-title":"Endocrinol Metab Clin N Am"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib82","doi-asserted-by":"crossref","first-page":"E348","DOI":"10.1210\/jc.2013-2918","article-title":"Novel associations in disorders of sex development: findings from the I-DSD Registry","volume":"99","author":"Cox","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib83","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1159\/000094782","article-title":"Epidemiology and initial management of ambiguous genitalia at birth in Germany","volume":"66","author":"Thyen","year":"2006","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib84","doi-asserted-by":"crossref","first-page":"153","DOI":"10.4274\/jcrpe.galenos.2022.2021-9-19","article-title":"Mutations in AR or SRD5A2 genes: clinical findings, endocrine pitfalls, and genetic features of children with 46,XY DSD","volume":"14","author":"Akcan","year":"2022","journal-title":"J\u00a0Clin Res Pediatr Endocrinol"},{"issue":"11","key":"10.1016\/j.ebiom.2023.104941_bib85","doi-asserted-by":"crossref","first-page":"3959","DOI":"10.1210\/jc.2016-1372","article-title":"The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene","volume":"101","author":"Lucas-Herald","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"8","key":"10.1016\/j.ebiom.2023.104941_bib86","doi-asserted-by":"crossref","first-page":"2868","DOI":"10.1210\/jc.2007-0024","article-title":"Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome","volume":"92","author":"Coutant","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"26","key":"10.1016\/j.ebiom.2023.104941_bib87","doi-asserted-by":"crossref","first-page":"10673","DOI":"10.1073\/pnas.1102364108","article-title":"Steroidogenic factor 1 directs programs regulating diet-induced thermogenesis and leptin action in the ventral medial hypothalamic nucleus","volume":"108","author":"Kim","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib88","first-page":"1044","article-title":"Birth weight in different etiologies of disorders of sex development","volume":"102","author":"Poyrazoglu","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib89","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/ped4.12010","article-title":"Physical assessment and reference growth curves for children with 46, XY disorders of sex development","volume":"1","author":"Wu","year":"2017","journal-title":"Pediatr Investig"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104941_bib90","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000328821","article-title":"Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development","volume":"5","author":"Barbaro","year":"2011","journal-title":"Sex Dev"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104941_bib91","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1007\/s12020-021-02883-y","article-title":"Pubertal development in 46,XY patients with NR5A1 mutations","volume":"75","author":"M\u00f6nig","year":"2022","journal-title":"Endocrine"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib92","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1159\/000320029","article-title":"Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects","volume":"75","author":"Warman","year":"2011","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.ebiom.2023.104941_bib93","doi-asserted-by":"crossref","DOI":"10.1155\/2014\/480724","article-title":"Long-term follow-up of patients with 46,XY partial gonadal dysgenesis reared as males","volume":"2014","author":"Gabriel Ribeiro de Andrade","year":"2014","journal-title":"Int J Endocrinol"},{"key":"10.1016\/j.ebiom.2023.104941_bib94","series-title":"StatPearls [Internet]","article-title":"5-Alpha-Reductase deficiency","author":"Kumar","year":"2023"},{"key":"10.1016\/j.ebiom.2023.104941_bib95","doi-asserted-by":"crossref","first-page":"83","DOI":"10.2147\/TACG.S198178","article-title":"Integrative and analytical review of the 5-alpha-reductase type 2 deficiency worldwide","volume":"13","author":"Batista","year":"2020","journal-title":"Appl Clin Genet"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104941_bib96","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00431-010-1189-4","article-title":"Practical approach to steroid 5alpha-reductase type 2 deficiency","volume":"170","author":"Cheon","year":"2011","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ebiom.2023.104941_bib97","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.coemr.2020.05.004","article-title":"Puberty in individuals with a disorder of sex development","volume":"14","author":"Nordenstr\u00f6m","year":"2020","journal-title":"Curr Opin Endocr Metab Res"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104941_bib98","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000442975","article-title":"Global disorders of sex development update since 2006: perceptions, approach and care","volume":"85","author":"Lee","year":"2016","journal-title":"Horm Res Paediatr"}],"container-title":["eBioMedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396423005078?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396423005078?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T21:11:46Z","timestamp":1739481106000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352396423005078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":98,"alternative-id":["S2352396423005078"],"URL":"https:\/\/doi.org\/10.1016\/j.ebiom.2023.104941","relation":{},"ISSN":["2352-3964"],"issn-type":[{"value":"2352-3964","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1\/SF-1 variants of sex development","name":"articletitle","label":"Article Title"},{"value":"eBioMedicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebiom.2023.104941","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2023 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"104941"}}