{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T03:53:13Z","timestamp":1773201193337,"version":"3.50.1"},"reference-count":10,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["26860832"],"award-info":[{"award-number":["26860832"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17H01539"],"award-info":[{"award-number":["17H01539"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["K09608"],"award-info":[{"award-number":["K09608"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","brainanddevelopment.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1016\/j.braindev.2017.12.013","type":"journal-article","created":{"date-parts":[[2018,3,5]],"date-time":"2018-03-05T13:39:05Z","timestamp":1520257145000},"page":"406-409","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies"],"prefix":"10.1016","volume":"40","author":[{"given":"Tomoko","family":"Saikusa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Munetsugu","family":"Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Iwama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kotaro","family":"Yuge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chihiro","family":"Ohba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-ichiro","family":"Okada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Hisano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushiro","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toyojiro","family":"Matsuishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2017.12.013_b0005","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2015-103568","article-title":"Identification of novel genetic causes of Rett syndrome-like phenotypes","volume":"53","author":"Lopes","year":"2016","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2017.12.013_b0010","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/30764","article-title":"Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex","volume":"393","author":"Nan","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.braindev.2017.12.013_b0015","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.a.30764","article-title":"Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2","volume":"137","author":"Huppke","year":"2005","journal-title":"Am J Med Gent A"},{"key":"10.1016\/j.braindev.2017.12.013_b0020","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2017.12.013_b0025","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.2017.12.013_b0030","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1038\/jhg.2010.155","article-title":"Breakpoint determination of X; autosome balanced translocations in four patients with premature ovarian failure","volume":"56","author":"Nishimura-Tadaki","year":"2011","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2017.12.013_b0035","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/nrneurol.2016.186","article-title":"Clinical and biological progress over 50 years in Rett syndrome","volume":"13","author":"Leonard","year":"2017","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.braindev.2017.12.013_b0040","doi-asserted-by":"crossref","first-page":"2888","DOI":"10.1093\/hmg\/ddu002","article-title":"Loss of function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange Syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance","volume":"23","author":"Kaiser","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.12.013_b0045","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/cge.12717","article-title":"Expanding the clinical spectrum of the \u2018HDAC8-phenotype\u2019 \u2013 implications for molecular diagnostics, counseling and risk prediction","volume":"89","author":"Parenti","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2017.12.013_b0050","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmedgenet-2012-100921","article-title":"X-exsome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaedomastia, hypogonadism and unusual face","volume":"49","author":"Harakalova","year":"2012","journal-title":"J Med Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418300019?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418300019?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T16:18:39Z","timestamp":1656692319000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760418300019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S0387760418300019"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2017.12.013","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2017.12.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}