{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:11:14Z","timestamp":1789423874918,"version":"build-2803163510"},"reference-count":6,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Ministry of Health, Labor and Welfare of Japan","award":["Jitsuyoka (Nanbyo)-Ippan-014 (23300102)"],"award-info":[{"award-number":["Jitsuyoka (Nanbyo)-Ippan-014 (23300102)"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1016\/j.ejmg.2013.05.012","type":"journal-article","created":{"date-parts":[[2013,7,26]],"date-time":"2013-07-26T13:05:26Z","timestamp":1374843926000},"page":"526-528","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["A 2.0\u00a0Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum"],"prefix":"10.1016","volume":"56","author":[{"given":"Masaki","family":"Takagi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goro","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshikatsu","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misa","family":"Honda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2013.05.012_bib1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","article-title":"FOXG1 is responsible for the congenital variant of Rett syndrome","volume":"83","author":"Ariani","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.05.012_bib2","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/jmg.2010.087528","article-title":"The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis","volume":"48","author":"Kort\u00fcm","year":"2011","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2013.05.012_bib3","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/ejhg.2012.127","article-title":"14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements","volume":"20","author":"Allou","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.05.012_bib4","first-page":"1","article-title":"14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype","volume":"12","author":"Ellaway","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.05.012_bib5","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ejmg.2009.09.004","article-title":"4.45\u00a0Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment","volume":"52","author":"Yeung","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2013.05.012_bib6","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.modgep.2005.09.006","article-title":"Expression of the protein kinase D (PKD) family during mouse embryogenesis","volume":"6","author":"Oster","year":"2006","journal-title":"Gene Expr. Patterns"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213001419?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213001419?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:40:04Z","timestamp":1761709204000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721213001419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9]]},"references-count":6,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["S1769721213001419"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.05.012","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2013,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A 2.0\u00a0Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.05.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}