{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:25:30Z","timestamp":1792005930114,"version":"4.4.0"},"reference-count":32,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T00:00:00Z","timestamp":1375401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour and Welfare of Japan"},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Strategic Research Program for Brain Sciences"},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science"},{"name":"Grant-in-Aid for Young Scientists from the Japan Society for the Promotion of Science"},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Yokohama Foundation for the Advancement of Medical Science"},{"DOI":"10.13039\/501100006094","name":"Hayashi Memorial Foundation for Female Natural Scientists","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006094","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in\n                      <jats:italic>MLL2<\/jats:italic>\n                      and\n                      <jats:italic>KDM6A<\/jats:italic>\n                      cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n\u2009=\u200958) and\/or targeted resequencing (n\u2009=\u200945) or whole exome sequencing (n\u2009=\u20095). We identified a mutation in\n                      <jats:italic>MLL2<\/jats:italic>\n                      or\n                      <jats:italic>KDM6A<\/jats:italic>\n                      in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty\u2010five\n                      <jats:italic>MLL2<\/jats:italic>\n                      mutations and two\n                      <jats:italic>KDM6A<\/jats:italic>\n                      mutations were novel. Non\u2010protein truncating\u2010type\n                      <jats:italic>MLL2<\/jats:italic>\n                      mutations were mainly located around functional domains, while truncating\u2010type mutations were scattered through the entire coding region. The facial features of patients in the\n                      <jats:italic>MLL2<\/jats:italic>\n                      truncating\u2010type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the\n                      <jats:italic>MLL2<\/jats:italic>\n                      mutation group than in the\n                      <jats:italic>KDM6A<\/jats:italic>\n                      mutation group. Short stature and postnatal growth retardation were observed in all individuals with\n                      <jats:italic>KDM6A<\/jats:italic>\n                      mutations, but in only half of the group with\n                      <jats:italic>MLL2<\/jats:italic>\n                      mutations. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36072","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T18:17:16Z","timestamp":1375467436000},"page":"2234-2243","source":"Crossref","is-referenced-by-count":162,"title":["<i>MLL2<\/i>\n                    and\n                    <i>KDM6A<\/i>\n                    mutations in patients with Kabuki syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Noriko","family":"Miyake","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eriko","family":"Koshimizu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Central Hospital, Aichi Human Service Center Kasugai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Saitama Children's Medical Center Iwatsuki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yamagata University Faculty of Medicine Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goro","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokyo Dental College Ichikawa General Hospital Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyo","family":"Mabe","sequence":"additional","affiliation":[{"name":"Department of Child Development Kumamoto University Hospital Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoriko","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Yoshino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toyojiro","family":"Matsuishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Ichi","family":"Takanashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kameda Medical Center Kamogawa Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[{"name":"John P. 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