{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T20:24:08Z","timestamp":1778790248693,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55\u201380% of patients with Kabuki syndrome, a mutation in <jats:italic>MLL2<\/jats:italic> is identified. Recently, eight patients with Kabuki syndrome and a mutation in <jats:italic>KDM6A<\/jats:italic> were described. In this report, we describe two brothers with a mutation in <jats:italic>KDM6A<\/jats:italic> inherited from their mother and maternal grandmother. The two boys have Kabuki\u2010like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X\u2010linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in <jats:italic>KDM6A<\/jats:italic>. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36442","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T03:24:21Z","timestamp":1395717861000},"page":"1289-1292","source":"Crossref","is-referenced-by-count":43,"title":["A three generation X\u2010linked family with Kabuki syndrome phenotype and a frameshift mutation in <i>KDM6A<\/i>"],"prefix":"10.1002","volume":"164","author":[{"given":"Damien","family":"Lederer","sequence":"first","affiliation":[{"name":"Center for Human Genetics IPG Charleroi (Gosselies) Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debbie","family":"Shears","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Churchill Hospital Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Benoit","sequence":"additional","affiliation":[{"name":"Center for Human Genetics IPG Charleroi (Gosselies) Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Verellen\u2010Dumoulin","sequence":"additional","affiliation":[{"name":"Center for Human Genetics IPG Charleroi (Gosselies) Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Maystadt","sequence":"additional","affiliation":[{"name":"Center for Human Genetics IPG Charleroi (Gosselies) Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30340"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.5.8.13045"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8175.2011.01651.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1747-0803.2007.00136.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.4.737"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34074"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1004-y"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-38"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36072"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22229"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21416"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5382-07.2008"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36442","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36442","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:01:59Z","timestamp":1696608119000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36442"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,24]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1002\/ajmg.a.36442"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36442","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,24]]}}}