{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T12:59:34Z","timestamp":1788699574747,"version":"build-2803163510"},"reference-count":20,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.braindev.2018.04.008","type":"journal-article","created":{"date-parts":[[2018,5,8]],"date-time":"2018-05-08T19:18:17Z","timestamp":1525807097000},"page":"678-684","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood"],"prefix":"10.1016","volume":"40","author":[{"given":"Kohji","family":"Kato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Mizuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mie","family":"Inaba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinobu","family":"Fukumura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Kurahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Maruyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Ieda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikumi","family":"Hori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Negishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2018.04.008_b0005","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1093\/hmg\/8.8.1461","article-title":"PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome","volume":"8","author":"Marsh","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0010","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","article-title":"Will the real Cowden syndrome please stand up: revised diagnostic criteria","volume":"37","author":"Eng","year":"2000","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0015","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1136\/jmg.2007.049981","article-title":"Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers","volume":"44","author":"Lachlan","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0020","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ejpn.2014.11.012","article-title":"Clinical presentation of PTEN mutation in childhood in the absense of family history of Cowden syndrome","volume":"19","author":"Busa","year":"2015","journal-title":"Eur J paediatr Neurol"},{"key":"10.1016\/j.braindev.2018.04.008_b0025","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s12881-016-0363-6","article-title":"A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly","volume":"18","author":"Negishi","year":"2017","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0030","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.braindev.2015.11.001","article-title":"Comparison of the Kyoto Scale of Psychological Development 2001 with the parent-rated Kinder Infant Development Scale (KIDS)","volume":"38","author":"Aoki","year":"2016","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2018.04.008_b0035","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1016\/j.eplepsyres.2014.09.010","article-title":"Developmental outcome after surgery in focal cortical dysplasia patients with early-onset epilepsy","volume":"108","author":"Kimura","year":"2014","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.braindev.2018.04.008_b0040","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1023\/A:1025713815924","article-title":"Bannayan-Riley-Ruvalcaba syndrome: further delination of the phenotype and management of PTEN mutation-positive cases","volume":"2","author":"Hendriks","year":"2003","journal-title":"Fam Cancer"},{"key":"10.1016\/j.braindev.2018.04.008_b0045","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0050","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1002\/ajmg.a.31619","article-title":"Increasing knowledge of PTEN germline mutations: two additional patients with autism and macrocephaly","volume":"143A","author":"Herman","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2018.04.008_b0055","doi-asserted-by":"crossref","first-page":"2902","DOI":"10.1002\/ajmg.a.36266","article-title":"PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol","volume":"161A","author":"Piccione","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2018.04.008_b0060","doi-asserted-by":"crossref","first-page":"2954","DOI":"10.1200\/JCO.2004.02.141","article-title":"The biology and clinical relevance of the PTEN tumor suppressor pathway","volume":"22","author":"Sansal","year":"2004","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.braindev.2018.04.008_b0065","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1136\/jmedgenet-2016-104484","article-title":"A retrospective chart review of the features of PTEN hamartoma tumor syndrome in children","volume":"54","author":"Hansen-Kiss","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0070","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng.2331","article-title":"De novo germline and postzygotic mutations in AKT3, PIK3R2, and PIK3CA cause a spectrum of related megalencephaly syndromes","volume":"44","author":"Rivi\u00e8re","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0075","doi-asserted-by":"crossref","first-page":"402","DOI":"10.3174\/ajnr.A3680","article-title":"Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients","volume":"35","author":"Bhargava","year":"2014","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.braindev.2018.04.008_b0080","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1093\/brain\/awv045","article-title":"PI3K\/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia","volume":"138","author":"Jansen","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2018.04.008_b0085","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/ajmg.a.36309","article-title":"Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations","volume":"164","author":"Vanderver","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2018.04.008_b0090","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","article-title":"A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands","volume":"88","author":"Tan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0095","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1136\/jmg.38.1.52","article-title":"The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome","volume":"38","author":"Parisi","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2018.04.008_b0100","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1158\/1078-0432.CCR-11-2283","article-title":"Lifetime cancer risks in individuals with germline PTEN mutations","volume":"18","author":"Tan","year":"2012","journal-title":"Clin CancerRes"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S038776041830175X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S038776041830175X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:47:57Z","timestamp":1759952877000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S038776041830175X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["S038776041830175X"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2018.04.008","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2018.04.008","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"}]}}