{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T05:37:15Z","timestamp":1791005835599,"version":"4.1.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971314"],"award-info":[{"award-number":["81971314"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1007\/s00439-022-02465-6","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T19:39:42Z","timestamp":1655840382000},"page":"1863-1873","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["46,XY disorders of sex development: the use of NGS for prevalent variants"],"prefix":"10.1007","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0991-9219","authenticated-orcid":false,"given":"Qi-Gen","family":"Xie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuo-Qing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Hua","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,21]]},"reference":[{"key":"2465_CR1","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1111\/j.2047-2927.2014.00215.x","volume":"2","author":"T Akcay","year":"2014","unstructured":"Akcay T, Fernandez-Cancio M, Turan S, G\u00fcran T, Audi L, Bereket A (2014) AR and SRD5A2 gene mutations in a series of 51 Turkish 46, XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology 2:572\u2013578. https:\/\/doi.org\/10.1111\/j.2047-2927.2014.00215.x","journal-title":"Andrology"},{"key":"2465_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104154","volume":"64","author":"A Ata","year":"2021","unstructured":"Ata A, \u00d6zen S, Onay H, Uzun S, G\u00f6k\u015fen D, \u00d6zk\u0131nay F, \u00d6zbaran NB, Ulman \u0130, Darcan \u015e (2021) A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. Eur J Med Genet 64:104154. https:\/\/doi.org\/10.1016\/j.ejmg.2021.104154","journal-title":"Eur J Med Genet"},{"issue":"1","key":"2465_CR3","doi-asserted-by":"publisher","first-page":"99","DOI":"10.2478\/bjmg-2021-0002","volume":"24","author":"N Begic","year":"2021","unstructured":"Begic N, Begic Z, Begic E (2021) Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience. Balk J Med Genet 24(1):99\u2013102. https:\/\/doi.org\/10.2478\/bjmg-2021-0002","journal-title":"Balk J Med Genet"},{"key":"2465_CR4","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1038\/s41574-018-0010-8","volume":"14","author":"M Cools","year":"2018","unstructured":"Cools M, Nordenstr\u00f6m A, Robeva R, Hall J, Westerveld P, Fl\u00fcck C, K\u00f6hler B, Berra M, Springer A, Schweizer K, Pasterski V (2018) Caring for individuals with a difference of sex development (DSD): a consensus statement. Nat Rev Endocrinol 14:415\u2013429. https:\/\/doi.org\/10.1038\/s41574-018-0010-8","journal-title":"Nat Rev Endocrinol"},{"key":"2465_CR5","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1038\/s41576-021-00365-5","volume":"22","author":"EC D\u00e9lot","year":"2021","unstructured":"D\u00e9lot EC, Vilain E (2021) Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet 22:588\u2013602. https:\/\/doi.org\/10.1038\/s41576-021-00365-5","journal-title":"Nat Rev Genet"},{"key":"2465_CR6","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1016\/j.eururo.2020.12.036","volume":"79","author":"V Ea","year":"2021","unstructured":"Ea V, Bergougnoux A, Philibert P, Servant-Fauconnet N, Faure A, Breaud J, Gaspari L, Sultan C, Paris F, Kalfa N (2021) How far should we explore hypospadias? Next-generation sequencing applied to a large cohort of hypospadiac patients. Eur Urol 79:507\u2013515. https:\/\/doi.org\/10.1016\/j.eururo.2020.12.036","journal-title":"Eur Urol"},{"key":"2465_CR7","doi-asserted-by":"publisher","first-page":"746","DOI":"10.3389\/fgene.2019.00746","volume":"10","author":"CE Fl\u00fcck","year":"2019","unstructured":"Fl\u00fcck CE, Aud\u00ed L, Fern\u00e1ndez-Cancio M, Sauter KS, Martinez de LaPiscina I, Casta\u00f1o L, Esteva I, Camats N (2019) Broad phenotypes of disorders\/differences of sex development in MAMLD1 patients through oligogenic disease. Front Genet 10:746. https:\/\/doi.org\/10.3389\/fgene.2019.00746","journal-title":"Front Genet"},{"key":"2465_CR8","doi-asserted-by":"publisher","first-page":"217","DOI":"10.4274\/Jcrpe.1135","volume":"5","author":"N Hatipo\u011flu","year":"2013","unstructured":"Hatipo\u011flu N, Kurto\u011flu S (2013) Micropenis: etiology, diagnosis and treatment approaches. J Clin Res Pediatr Endocrinol 5:217\u2013223. https:\/\/doi.org\/10.4274\/Jcrpe.1135","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2465_CR9","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1136\/adc.2006.098319","volume":"91","author":"IA Hughes","year":"2006","unstructured":"Hughes IA, Houk C, Ahmed SF, Lee PA (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91:554\u2013563. https:\/\/doi.org\/10.1136\/adc.2006.098319","journal-title":"Arch Dis Child"},{"key":"2465_CR10","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1530\/ec-18-0376","volume":"8","author":"LA Hughes","year":"2019","unstructured":"Hughes LA, McKay-Bounford K, Webb EA, Dasani P, Clokie S, Chandran H, McCarthy L, Mohamed Z, Kirk JMW, Krone NP, Allen S, Cole TRP (2019) Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). Endocr Connect 8:100\u2013110. https:\/\/doi.org\/10.1530\/ec-18-0376","journal-title":"Endocr Connect"},{"key":"2465_CR11","doi-asserted-by":"publisher","first-page":"368","DOI":"10.4103\/aja.aja_97_19","volume":"22","author":"M Iijima","year":"2020","unstructured":"Iijima M, Shigehara K, Igarashi H, Kyono K, Suzuki Y, Tsuji Y, Kobori Y, Kobayashi H, Mizokami A (2020) Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility. Asian J Androl 22:368\u2013371. https:\/\/doi.org\/10.4103\/aja.aja_97_19","journal-title":"Asian J Androl"},{"key":"2465_CR12","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1515\/jpem-2016-0048","volume":"30","author":"C Ittiwut","year":"2017","unstructured":"Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V (2017) Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development. J Pediatr Endocrinol Metab 30:19\u201326. https:\/\/doi.org\/10.1515\/jpem-2016-0048","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2465_CR13","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1111\/j.1365-2605.2009.01050.x","volume":"33","author":"N J\u00f8rgensen","year":"2010","unstructured":"J\u00f8rgensen N, Rajpert-De Meyts E, Main KM, Skakkebaek NE (2010) Testicular dysgenesis syndrome comprises some but not all cases of hypospadias and impaired spermatogenesis. Int J Androl 33:298\u2013303. https:\/\/doi.org\/10.1111\/j.1365-2605.2009.01050.x","journal-title":"Int J Androl"},{"key":"2465_CR14","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.mce.2017.01.037","volume":"444","author":"JH Kim","year":"2017","unstructured":"Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH (2017) Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development. Mol Cell Endocrinol 444:19\u201325. https:\/\/doi.org\/10.1016\/j.mce.2017.01.037","journal-title":"Mol Cell Endocrinol"},{"key":"2465_CR15","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324","journal-title":"Bioinformatics"},{"key":"2465_CR16","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1111\/j.1365-2265.2008.03392.x","volume":"70","author":"BB Mendonca","year":"2009","unstructured":"Mendonca BB, Domenice S, Arnhold IJ, Costa EM (2009) 46, XY disorders of sex development (DSD). Clin Endocrinol (oxf) 70:173\u2013187. https:\/\/doi.org\/10.1111\/j.1365-2265.2008.03392.x","journal-title":"Clin Endocrinol (oxf)"},{"key":"2465_CR17","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1210\/jc.2016-3414","volume":"102","author":"DR Murdock","year":"2017","unstructured":"Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P (2017) Whole-exome sequencing for diagnosis of turner syndrome: toward next-generation sequencing and newborn screening. J Clin Endocrinol Metab 102:1529\u20131537. https:\/\/doi.org\/10.1210\/jc.2016-3414","journal-title":"J Clin Endocrinol Metab"},{"key":"2465_CR18","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1093\/molehr\/gaq072","volume":"17","author":"M Nie","year":"2011","unstructured":"Nie M, Zhou Q, Mao J, Lu S, Wu X (2011) Five novel mutations of SRD5A2 found in eight Chinese patients with 46, XY disorders of sex development. Mol Hum Reprod 17:57\u201362. https:\/\/doi.org\/10.1093\/molehr\/gaq072","journal-title":"Mol Hum Reprod"},{"key":"2465_CR19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3000002","volume":"17","author":"PJ O'Shaughnessy","year":"2019","unstructured":"O\u2019Shaughnessy PJ, Antignac JP, Le Bizec B, Morvan ML, Svechnikov K, S\u00f6der O, Savchuk I, Monteiro A, Soffientini U, Johnston ZC, Bellingham M, Hough D, Walker N, Filis P, Fowler PA (2019) Alternative (backdoor) androgen production and masculinization in the human fetus. PLoS Biol 17:e3000002. https:\/\/doi.org\/10.1371\/journal.pbio.3000002","journal-title":"PLoS Biol"},{"key":"2465_CR20","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1071\/rd17501","volume":"31","author":"JY Picard","year":"2019","unstructured":"Picard JY, Josso N (2019) Persistent M\u00fcllerian duct syndrome: an update. Reprod Fertil Dev 31:1240\u20131245. https:\/\/doi.org\/10.1071\/rd17501","journal-title":"Reprod Fertil Dev"},{"key":"2465_CR21","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) 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. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2465_CR22","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1007\/s00120-017-0498-x","volume":"56","author":"I R\u00fcbben","year":"2017","unstructured":"R\u00fcbben I, Stein R (2017) Hypospadias: insights and challenges. Urologe A 56:1256\u20131265. https:\/\/doi.org\/10.1007\/s00120-017-0498-x","journal-title":"Urologe A"},{"key":"2465_CR23","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1093\/aje\/kwm317","volume":"167","author":"TH Schnack","year":"2008","unstructured":"Schnack TH, Zdravkovic S, Myrup C, Westergaard T, Christensen K, Wohlfahrt J, Melbye M (2008) Familial aggregation of hypospadias: a cohort study. Am J Epidemiol 167:251\u2013256. https:\/\/doi.org\/10.1093\/aje\/kwm317","journal-title":"Am J Epidemiol"},{"key":"2465_CR24","doi-asserted-by":"publisher","first-page":"e33","DOI":"10.1016\/j.fertnstert.2007.12.026","volume":"89","author":"RM Sharpe","year":"2008","unstructured":"Sharpe RM, Skakkebaek NE (2008) Testicular dysgenesis syndrome: mechanistic insights and potential new downstream effects. Fertil Steril 89:e33\u2013e38. https:\/\/doi.org\/10.1016\/j.fertnstert.2007.12.026","journal-title":"Fertil Steril"},{"key":"2465_CR25","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.metabol.2017.10.012","volume":"86","author":"MI Stamou","year":"2018","unstructured":"Stamou MI, Georgopoulos NA (2018) Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism 86:124\u2013134. https:\/\/doi.org\/10.1016\/j.metabol.2017.10.012","journal-title":"Metabolism"},{"key":"2465_CR26","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1136\/jmg.27.9.559","volume":"27","author":"C Stoll","year":"1990","unstructured":"Stoll C, Alembik Y, Roth MP, Dott B (1990) Genetic and environmental factors in hypospadias. J Med Genet 27:559\u2013563. https:\/\/doi.org\/10.1136\/jmg.27.9.559","journal-title":"J Med Genet"},{"key":"2465_CR27","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1002\/rmb2.12321","volume":"19","author":"E Suzuki","year":"2020","unstructured":"Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M, Fukami M (2020) Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: implications for the rarity of early onset mosaic loss of chromosome Y. Reprod Med Biol 19:178\u2013181. https:\/\/doi.org\/10.1002\/rmb2.12321","journal-title":"Reprod Med Biol"},{"key":"2465_CR28","doi-asserted-by":"publisher","first-page":"97","DOI":"10.3389\/fendo.2019.00097","volume":"10","author":"DS Swee","year":"2019","unstructured":"Swee DS, Quinton R (2019) Congenital hypogonadotrophic hypogonadism: minipuberty and the case for neonatal diagnosis. Front Endocrinol (lausanne) 10:97. https:\/\/doi.org\/10.3389\/fendo.2019.00097","journal-title":"Front Endocrinol (lausanne)"},{"key":"2465_CR29","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1093\/bib\/bbs017","volume":"14","author":"H Thorvaldsd\u00f3ttir","year":"2013","unstructured":"Thorvaldsd\u00f3ttir H, Robinson JT, Mesirov JP (2013) Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 14:178\u2013192. https:\/\/doi.org\/10.1093\/bib\/bbs017","journal-title":"Brief Bioinform"},{"key":"2465_CR30","doi-asserted-by":"publisher","first-page":"113","DOI":"10.4274\/jcrpe.2017.S010","volume":"9","author":"AK Topalo\u011flu","year":"2017","unstructured":"Topalo\u011flu AK (2017) Update on the genetics of idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol 9:113\u2013122. https:\/\/doi.org\/10.4274\/jcrpe.2017.S010","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2465_CR31","doi-asserted-by":"publisher","first-page":"2354","DOI":"10.1016\/j.juro.2012.08.033","volume":"188","author":"LF van der Zanden","year":"2012","unstructured":"van der Zanden LF, Galesloot TE, Feitz WF, Brouwers MM, Shi M, Knoers NV, Franke B, Roeleveld N, van Rooij IA (2012a) Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias. J Urol 188:2354\u20132360. https:\/\/doi.org\/10.1016\/j.juro.2012.08.033","journal-title":"J Urol"},{"key":"2465_CR32","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1093\/humupd\/dms002","volume":"18","author":"LF van der Zanden","year":"2012","unstructured":"van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV, Roeleveld N (2012b) Aetiology of hypospadias: a systematic review of genes and environment. Hum Reprod Update 18:260\u2013283. https:\/\/doi.org\/10.1093\/humupd\/dms002","journal-title":"Hum Reprod Update"},{"key":"2465_CR33","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1159\/000313372","volume":"74","author":"KN Walter","year":"2010","unstructured":"Walter KN, Kienzle FB, Frankenschmidt A, Hiort O, Wudy SA, van der Werf-Grohmann N, Superti-Furga A, Schwab KO (2010) Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46, XY DSD. Horm Res Paediatr 74:67\u201371. https:\/\/doi.org\/10.1159\/000313372","journal-title":"Horm Res Paediatr"},{"key":"2465_CR34","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1007\/s00439-018-1879-y","volume":"137","author":"H Wang","year":"2018","unstructured":"Wang H, Zhang L, Wang N, Zhu H, Han B, Sun F, Yao H, Zhang Q, Zhu W, Cheng T, Cheng K, Liu Y, Zhao S, Song H, Qiao J (2018) Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. Hum Genet 137:265\u2013277. https:\/\/doi.org\/10.1007\/s00439-018-1879-y","journal-title":"Hum Genet"},{"key":"2465_CR35","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1038\/s41436-019-0634-7","volume":"22","author":"H Wang","year":"2020","unstructured":"Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang KYC, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, Kwok YK, Morton CC, Zhu Y, Choy KW (2020) Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genet Med 22:500\u2013510. https:\/\/doi.org\/10.1038\/s41436-019-0634-7","journal-title":"Genet Med"},{"key":"2465_CR36","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","volume":"367","author":"RJ Wapner","year":"2012","unstructured":"Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367:2175\u20132184. https:\/\/doi.org\/10.1056\/NEJMoa1203382","journal-title":"N Engl J Med"},{"key":"2465_CR37","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1210\/er.2019-00049","volume":"40","author":"AB Wisniewski","year":"2019","unstructured":"Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, D\u00e9nes FT, Domenice S, Mendonca BB (2019) Management of 46, XY differences\/disorders of sex development (DSD) throughout life. Endocr Rev 40:1547\u20131572. https:\/\/doi.org\/10.1210\/er.2019-00049","journal-title":"Endocr Rev"},{"key":"2465_CR38","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1080\/09513590.2021.1960307","volume":"37","author":"J Xia","year":"2021","unstructured":"Xia J, Wu J, Chen C, Zhao Z, Xie Y, Bai Z, Kong X (2021) Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development. Gynecol Endocrinol 37:934\u2013940. https:\/\/doi.org\/10.1080\/09513590.2021.1960307","journal-title":"Gynecol Endocrinol"},{"key":"2465_CR39","doi-asserted-by":"publisher","first-page":"69","DOI":"10.4103\/aja.aja_36_20","volume":"23","author":"BQ Yu","year":"2021","unstructured":"Yu BQ, Liu ZX, Gao YJ, Wang X, Mao JF, Nie M, Wu XY (2021) Prevalence of gene mutations in a Chinese 46, XY disorders of sex development cohort detected by targeted next-generation sequencing. Asian J Androl 23:69\u201373. https:\/\/doi.org\/10.4103\/aja.aja_36_20","journal-title":"Asian J Androl"},{"key":"2465_CR40","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.827","volume":"7","author":"W Zhang","year":"2019","unstructured":"Zhang W, Shi J, Zhang C, Jiang X, Wang J, Wang W, Wang D, Ni J, Chen L, Lu W, Xiao Y, Ye W, Dong Z (2019) Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing. Mol Genet Genomic Med 7:e827. https:\/\/doi.org\/10.1002\/mgg3.827","journal-title":"Mol Genet Genomic Med"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02465-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-022-02465-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02465-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T06:05:19Z","timestamp":1668665119000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-022-02465-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,21]]},"references-count":40,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["2465"],"URL":"https:\/\/doi.org\/10.1007\/s00439-022-02465-6","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,21]]},"assertion":[{"value":"19 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have declared that no competing interests exist.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}