{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:46:23Z","timestamp":1761734783974,"version":"build-2065373602"},"reference-count":21,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T00:00:00Z","timestamp":1692835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,10]]},"DOI":"10.1016\/j.ejmg.2023.104824","type":"journal-article","created":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T05:01:40Z","timestamp":1692939700000},"page":"104824","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Tissue specific trisomy 15 mosaicism associated with urogenital malformations"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6638-4631","authenticated-orcid":false,"given":"Agneta","family":"Nordenskj\u00f6ld","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9848-0468","authenticated-orcid":false,"given":"Kristina","family":"Lagerstedt-Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2488-6024","authenticated-orcid":false,"given":"Britt-Marie","family":"Anderlid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1042-618X","authenticated-orcid":false,"given":"Johanna","family":"Lundin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2023.104824_bib1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/1471-2350-13-109","article-title":"The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians","volume":"13","author":"Adamovic","year":"2012","journal-title":"BMC Med. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2023.104824_bib2","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0277524","article-title":"Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux","volume":"17","author":"Bartik","year":"2022","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib3","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.jpedsurg.2005.11.059","article-title":"Hypospadias: anatomy, etiology, and technique","volume":"41","author":"Baskin","year":"2006","journal-title":"J. Pediatr. Surg."},{"issue":"12","key":"10.1016\/j.ejmg.2023.104824_bib4","doi-asserted-by":"crossref","first-page":"1954","DOI":"10.1038\/ajg.2014.346","article-title":"Somatic mosaicism in esophageal atresia","volume":"109","author":"Bednarczyk","year":"2014","journal-title":"Am. J. Gastroenterol."},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib5","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ucl.2023.04.003","article-title":"Vesicoureteral reflux: current care trends and future possibilities","volume":"50","author":"Bortnick","year":"2023","journal-title":"Urol. Clin."},{"issue":"2","key":"10.1016\/j.ejmg.2023.104824_bib6","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.tig.2015.07.004","article-title":"Somatic mosaicism: implications for disease and transmission genetics [published correction appears in","volume":"32","author":"Campbell","year":"2016","journal-title":"Trends Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2023.104824_bib7","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.tjog.2022.05.004","article-title":"Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome","volume":"61","author":"Chen","year":"2022","journal-title":"Taiwan. J. Obstet. Gynecol."},{"issue":"2","key":"10.1016\/j.ejmg.2023.104824_bib8","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1136\/jmg.18.2.146","article-title":"A case of trisomy of chromosome 15","volume":"18","author":"Coldwell","year":"1981","journal-title":"J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2023.104824_bib9","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.eururo.2020.12.036","article-title":"How far should we explore hypospadias? Next-Generation sequencing applied to a large cohort of hypospadiac patients","volume":"79","author":"Ea","year":"2021","journal-title":"Eur. Urol."},{"issue":"12","key":"10.1016\/j.ejmg.2023.104824_bib10","doi-asserted-by":"crossref","first-page":"R577","DOI":"10.1016\/j.cub.2014.05.021","article-title":"Somatic mosaicism and disease","volume":"24","author":"Frank","year":"2014","journal-title":"Curr. Biol."},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib11","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0003-3995(01)01080-2","article-title":"Mosaic trisomy 15 and hemihypertrophy","volume":"44","author":"G\u00e9rard-Blanluet","year":"2001","journal-title":"Ann. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib12","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/01.mcd.0000134478.87995.4b","article-title":"Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation","volume":"13","author":"Knauer-Fischer","year":"2004","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2023.104824_bib13","doi-asserted-by":"crossref","DOI":"10.1038\/s41581-023-00742-9","article-title":"The genetics and pathogenesis of CAKUT","author":"Kolvenbach","year":"2023","journal-title":"Nat. Rev. Nephrol."},{"issue":"1","key":"10.1016\/j.ejmg.2023.104824_bib14","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1055\/s-2007-999337","article-title":"Trisomy 15 associated with nonimmune hydrops","volume":"8","author":"Kuller","year":"1991","journal-title":"Am. J. Perinatol."},{"issue":"4","key":"10.1016\/j.ejmg.2023.104824_bib15","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/ajmg.a.36958","article-title":"Mosaic trisomy 15 in a liveborn infant","volume":"167A","author":"McPadden","year":"2015","journal-title":"Am. J. Med. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2023.104824_bib16","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.3390\/genes13071214","article-title":"Exploring the mutational landscape of isolated congenital heart defects: an exome sequencing study using cardiac DNA","volume":"13","author":"Meerschaut","year":"2022","journal-title":"Genes"},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib17","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1159\/000488162","article-title":"Somatically acquired isodicentric Y and mosaic loss of chromosome Y in a boy with hypospadias","volume":"154","author":"Miyado","year":"2018","journal-title":"Cytogenet. Genome Res."},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib18","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.juro.2013.09.058","article-title":"Population based nationwide study of hypospadias in Sweden, 1973 to 2009: incidence and risk factors","volume":"191","author":"Nordenvall","year":"2014","journal-title":"J. Urol."},{"key":"10.1016\/j.ejmg.2023.104824_bib19","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1755-8166-7-33","article-title":"Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory","volume":"7","author":"Wang","year":"2014","journal-title":"Mol. Cytogenet."},{"issue":"3","key":"10.1016\/j.ejmg.2023.104824_bib20","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1097\/HCO.0b013e3280f629c7","article-title":"The genetics of congenital heart disease: a review of recent developments","volume":"22","author":"Weismann","year":"2007","journal-title":"Curr. Opin. Cardiol."},{"issue":"10","key":"10.1016\/j.ejmg.2023.104824_bib21","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nrg906","article-title":"Mechanisms and consequences of somatic mosaicism in humans","volume":"3","author":"Youssoufian","year":"2002","journal-title":"Nat. Rev. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223001301?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223001301?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:29Z","timestamp":1761710069000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721223001301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["S1769721223001301"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104824","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Tissue specific trisomy 15 mosaicism associated with urogenital malformations","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104824","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104824"}}