{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:06:05Z","timestamp":1776830765221,"version":"3.51.2"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,12]],"date-time":"2017-02-12T00:00:00Z","timestamp":1486857600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16K10007"],"award-info":[{"award-number":["16K10007"]}],"id":[{"id":"10.13039\/501100001691","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"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare, Japan","doi-asserted-by":"publisher","award":["Jitsuyoka Nanbyo\u2010Ippan\u2010014"],"award-info":[{"award-number":["Jitsuyoka Nanbyo\u2010Ippan\u2010014"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Germline or somatic gain\u2010of\u2010function mutations in the v\u2010akt murine thymoma viral oncogene homolog 3 (<jats:italic>AKT3<\/jats:italic>) have been reported to cause syndromic megalencephaly. We describe a novel germline mutation, p.Glu40Lys, in <jats:italic>AKT3<\/jats:italic>. Phenotypically, the patient presented with megalencephaly with hypotonia, apparent connective tissue laxity, and growth hormone (GH) deficiency. To our knowledge, this is the first instance of a patient with megalencephaly with GH deficiency, harboring a germline de novo mutation in <jats:italic>AKT3<\/jats:italic>. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38099","type":"journal-article","created":{"date-parts":[[2017,2,12]],"date-time":"2017-02-12T16:06:46Z","timestamp":1486915606000},"page":"1071-1076","source":"Crossref","is-referenced-by-count":11,"title":["A novel de novo germline mutation Glu40Lys in <i>AKT3<\/i> causes megalencephaly with growth hormone deficiency"],"prefix":"10.1002","volume":"173","author":[{"given":"Masaki","family":"Takagi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazushige","family":"Dobashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Nagahara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuji","family":"Fukuzawa","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Narumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36710"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1210878"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv045"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2329"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34402"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12188"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.11.018"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.03.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37481"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35999"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2009-10-11-r130"}],"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.38099","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:36:46Z","timestamp":1696552606000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,12]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1002\/ajmg.a.38099"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38099","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,12]]}}}