{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:18:41Z","timestamp":1790619521923,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T00:00:00Z","timestamp":1371772800000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Somatic and germline duplications of <jats:italic>AKT3<\/jats:italic> and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3\u2009Mb duplication on 1q43q44 that includes <jats:italic>AKT3<\/jats:italic>. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low\u2010set, protruding ears. The 3\u2009Mb duplicated region contained 15 genes including <jats:italic>AKT3<\/jats:italic>. The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of <jats:italic>AKT3<\/jats:italic> dosage imbalances in brain growth disturbance. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35999","type":"journal-article","created":{"date-parts":[[2013,6,22]],"date-time":"2013-06-22T02:00:44Z","timestamp":1371866444000},"page":"2016-2019","source":"Crossref","is-referenced-by-count":43,"title":["Duplication of <i>AKT<\/i><i>3<\/i> as a cause of macrocephaly in duplication 1q43q44"],"prefix":"10.1002","volume":"161","author":[{"given":"David","family":"Wang","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Toronto Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Zeesman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University Hamilton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A.","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University Hamilton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata J.M.","family":"Nowaczyk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University Hamilton Canada"},{"name":"Department of Pathology and Molecular Medicine McMaster University Hamilton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053926"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/519999"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02869.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000106446"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2011.05.004"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102. 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