{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T01:16:47Z","timestamp":1774574207319,"version":"3.50.1"},"reference-count":10,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Research on Measures for Intractable Diseases"},{"name":"Comprehensive Research on Disability Health and Welfare"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.braindev.2016.08.008","type":"journal-article","created":{"date-parts":[[2016,9,24]],"date-time":"2016-09-24T12:14:36Z","timestamp":1474719276000},"page":"177-181","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Mandibulofacial dysostosis with microcephaly: A case presenting with seizures"],"prefix":"10.1016","volume":"39","author":[{"given":"Mari","family":"Matsuo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akemi","family":"Yamauchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masako","family":"Sakauchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2016.08.008_b0005","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ajhg.2011.12.023","article-title":"Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly","volume":"90","author":"Lines","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2016.08.008_b0010","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmedgenet-2012-101173","article-title":"EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia","volume":"49","author":"Gordon","year":"2012","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2016.08.008_b0015","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1186\/1750-1172-8-110","article-title":"Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations","volume":"8","author":"Voigt","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.braindev.2016.08.008_b0020","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1597\/13-221","article-title":"Radioulnar synostosis and brain abnormalities in a patient with 17q21.31 microdeletion involving EFTUD2","volume":"52","author":"Zarate","year":"2015","journal-title":"Cleft Palate Craniofac J"},{"key":"10.1016\/j.braindev.2016.08.008_b0025","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/humu.22924","article-title":"Mandibulofacial dysostosis with microcephaly: mutation and database update","volume":"37","author":"Huang","year":"2016","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2016.08.008_b0030","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.eplepsyres.2010.02.002","article-title":"Genomic copy number variations at 17p13.3 and epileptogenesis","volume":"89","author":"Shimojima","year":"2010","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.braindev.2016.08.008_b0035","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.2562","article-title":"De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood","volume":"45","author":"Saitsu","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2016.08.008_b0040","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/bdra.23397","article-title":"EFTUD2 deficiency invertebrates: identification of a novel human mutation and generation of a zebrafish model","volume":"103","author":"Deml","year":"2015","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10.1016\/j.braindev.2016.08.008_b0045","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2011.04.008","article-title":"A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa","volume":"88","author":"Tanackovic","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2016.08.008_b0050","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1126\/science.1200587","article-title":"Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I","volume":"332","author":"He","year":"2011","journal-title":"Science"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760416301267?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760416301267?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T04:52:37Z","timestamp":1536382357000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760416301267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["S0387760416301267"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2016.08.008","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mandibulofacial dysostosis with microcephaly: A case presenting with seizures","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2016.08.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}