{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:09:47Z","timestamp":1792145387667,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,4,14]],"date-time":"2015-04-14T00:00:00Z","timestamp":1428969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>Wiedemann\u2013Steiner syndrome (<jats:styled-content style=\"fixed-case\">WSS<\/jats:styled-content>) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre\u2010 and post\u2010natal growth deficiency, and psychomotor delay. <jats:styled-content style=\"fixed-case\">WSS<\/jats:styled-content> is caused by heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KMT2A<\/jats:styled-content><\/jats:italic> (also known as <jats:italic><jats:styled-content style=\"fixed-case\">MLL<\/jats:styled-content><\/jats:italic>), a gene encoding a histone methyltransferase. Here, we identify six novel <jats:italic><jats:styled-content style=\"fixed-case\">KMT2A<\/jats:styled-content><\/jats:italic> mutations in six <jats:styled-content style=\"fixed-case\">WSS<\/jats:styled-content> patients, with four mutations occurring <jats:italic>de novo<\/jats:italic>. Interestingly, some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KMT2D<\/jats:styled-content><\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">KDM6A<\/jats:styled-content><\/jats:italic>, genes also involved in histone methylation. <jats:italic><jats:styled-content style=\"fixed-case\">KMT2A<\/jats:styled-content><\/jats:italic> mutations and clinical features are summarized in our six patients together with eight previously reported patients. Furthermore, clinical comparison of the two syndromes is discussed in detail.<\/jats:p>","DOI":"10.1111\/cge.12586","type":"journal-article","created":{"date-parts":[[2015,3,25]],"date-time":"2015-03-25T08:22:20Z","timestamp":1427271740000},"page":"115-119","source":"Crossref","is-referenced-by-count":70,"title":["Delineation of clinical features in Wiedemann\u2013Steiner syndrome caused by <i><scp>KMT2A<\/scp><\/i> mutations"],"prefix":"10.1111","volume":"89","author":[{"given":"N.","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":"Y.","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama 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