{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:19:57Z","timestamp":1790813997718,"version":"4.1.0"},"reference-count":15,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["22ek0109489h0003"],"award-info":[{"award-number":["22ek0109489h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2023,8]]},"DOI":"10.1016\/j.ejmg.2023.104806","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T21:10:19Z","timestamp":1687813819000},"page":"104806","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis"],"prefix":"10.1016","volume":"66","author":[{"given":"Tomoko","family":"Kawai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Ogata-Kawata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Kamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuaki","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichiro","family":"Hata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takako","family":"Takano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2927-0963","authenticated-orcid":false,"given":"Kazuhiko","family":"Nakabayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2023.104806_bib1","series-title":"Updated 2021 July 15. Kabuki Syndrome. 2011 Sep 1","article-title":"GeneReviews\u00ae [internet]","author":"Adam","year":"1993"},{"key":"10.1016\/j.ejmg.2023.104806_bib2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/nature06145","article-title":"UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development","volume":"449","author":"Agger","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2023.104806_bib3","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.braindev.2015.11.001","article-title":"Comparison of the Kyoto Scale of psychological development 2001 with the parent-related kinder infant development Scale (KIDS)","volume":"38","author":"Aoki","year":"2016","journal-title":"Brain Dev."},{"key":"10.1016\/j.ejmg.2023.104806_bib4","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.ajhg.2020.01.019","article-title":"Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders","volume":"106","author":"Aref-Eshghi","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib5","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/j.1399-0004.2012.01955.x","article-title":"MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome","volume":"83","author":"Banka","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib6","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/j.ajhg.2017.04.004","article-title":"CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions","volume":"100","author":"Butcher","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib7","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1038\/s41436-021-01119-8","article-title":"Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2","volume":"23","author":"Faundes","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2023.104806_bib8","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1002\/ajmg.a.34074","article-title":"Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome","volume":"155A","author":"Hannibal","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib9","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1297\/cpe.25.71","article-title":"Growth standard charts for Japanese children with mean and standard deviation (SD) values based on the year 2000 national survey","volume":"25","author":"Isojima","year":"2016","journal-title":"Clin. Pediatr. Endocrinol."},{"key":"10.1016\/j.ejmg.2023.104806_bib10","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.ajhg.2011.11.021","article-title":"Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome","volume":"90","author":"Lederer","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib11","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1126\/science.1149042","article-title":"Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination","volume":"318","author":"Lee","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2023.104806_bib12","doi-asserted-by":"crossref","first-page":"82","DOI":"10.3390\/ijms19010082","article-title":"Clinical and neurobehavioral features of three novel Kabuki syndrome patients with mosaic KMT2D mutations and a review of literature","volume":"19","author":"Lepri","year":"2017","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ejmg.2023.104806_bib13","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib14","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ajmg.1320310312","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients","volume":"31","author":"Niikawa","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104806_bib15","doi-asserted-by":"crossref","first-page":"aad9780","DOI":"10.1126\/science.aad9780","article-title":"Epigenetic balance of gene expression by Polycomb and COMPASS families","volume":"352","author":"Piunti","year":"2016","journal-title":"Science"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122300112X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122300112X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:20Z","timestamp":1761710060000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972122300112X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S176972122300112X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104806","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104806","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104806"}}