{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T09:17:54Z","timestamp":1775812674932,"version":"3.50.1"},"reference-count":23,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1016\/j.ejpn.2014.11.012","type":"journal-article","created":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T12:46:49Z","timestamp":1418734009000},"page":"188-192","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["Clinical presentation of PTEN mutations in childhood in the absence of family history of\u00a0Cowden syndrome"],"prefix":"10.1016","volume":"19","author":[{"given":"T.","family":"Busa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Milh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3625-7687","authenticated-orcid":false,"given":"N.","family":"Degardin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Girard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Sigaudy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8739-5508","authenticated-orcid":false,"given":"M.","family":"Longy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Olshchwang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Sobol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Chabrol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Philip","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejpn.2014.11.012_bib1","first-page":"1","article-title":"Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome","volume":"92","author":"Bannayan","year":"1971","journal-title":"Arch Pathol"},{"issue":"2","key":"10.1016\/j.ejpn.2014.11.012_bib2","doi-asserted-by":"crossref","first-page":"402","DOI":"10.3174\/ajnr.A3680","article-title":"Bannayan\u2013Riley\u2013Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients","volume":"35","author":"Bhargava","year":"2014","journal-title":"AJNR Am J Neuroradiol"},{"issue":"2","key":"10.1016\/j.ejpn.2014.11.012_bib3","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.gene.2012.09.134","article-title":"Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling","volume":"512","author":"Busa","year":"2013","journal-title":"Gene"},{"issue":"4","key":"10.1016\/j.ejpn.2014.11.012_bib4","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 tumour suppressor gene mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.ejpn.2014.11.012_bib5","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/ajmg.b.30493","article-title":"Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly","volume":"144B","author":"Buxbaum","year":"2007","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"10","key":"10.1016\/j.ejpn.2014.11.012_bib6","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.braindev.2012.03.005","article-title":"An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy","volume":"34","author":"Elia","year":"2012","journal-title":"Brain Dev"},{"issue":"11","key":"10.1016\/j.ejpn.2014.11.012_bib7","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.ejpn.2014.11.012_bib8","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.1320440309","article-title":"Bannayan\u2013Riley\u2013Ruvalcaba syndrome","volume":"44","author":"Gorlin","year":"1992","journal-title":"Am J Med Genet"},{"issue":"10","key":"10.1016\/j.ejpn.2014.11.012_bib9","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/GIM.0b013e3181ac9aea","article-title":"PTEN hamartoma tumor syndrome: an overview","volume":"11","author":"Hobert","year":"2009","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.ejpn.2014.11.012_bib10","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1097\/PAS.0b013e31824dd86c","article-title":"PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes","volume":"36","author":"Kurek","year":"2012","journal-title":"Am J Surg Pathol"},{"issue":"9","key":"10.1016\/j.ejpn.2014.11.012_bib11","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"},{"issue":"3","key":"10.1016\/j.ejpn.2014.11.012_bib12","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1093\/hmg\/7.3.507","article-title":"Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan\u2013Zonana syndrome, two hamartoma syndromes with germline PTEN mutation","volume":"7","author":"Marsh","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2014.11.012_bib13","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\u2013Riley\u2013Ruvalcaba syndrome suggest a single entity with Cowden syndrome","volume":"8","author":"Marsh","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"3","key":"10.1016\/j.ejpn.2014.11.012_bib14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/aur.132","article-title":"Confirmation study of PTEN mutations among individuals with autism or developmental delays\/mental retardation and macrocephaly","volume":"3","author":"McBride","year":"2010","journal-title":"Autism Res"},{"issue":"2","key":"10.1016\/j.ejpn.2014.11.012_bib15","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ajmg.c.31361","article-title":"Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP","volume":"163C","author":"Mirzaa","year":"2013","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"1","key":"10.1016\/j.ejpn.2014.11.012_bib16","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2012.10.021","article-title":"Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes","volume":"92","author":"Orloff","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.ejpn.2014.11.012_bib17","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\u2013Riley\u2013Ruvalcaba syndrome","volume":"38","author":"Parisi","year":"2001","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.ejpn.2014.11.012_bib18","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.2004.018036","article-title":"Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome","volume":"41","author":"Pilarski","year":"2004","journal-title":"J Med Genet"},{"issue":"8","key":"10.1016\/j.ejpn.2014.11.012_bib19","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"},{"issue":"1","key":"10.1016\/j.ejpn.2014.11.012_bib20","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1210\/jc.2010-1315","article-title":"Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome","volume":"96","author":"Smith","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ejpn.2014.11.012_bib21","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1136\/archdischild-2014-305997","article-title":"PTEN hamartoma tumour syndrome: early tumour development in children","volume":"100","author":"Smpokou","year":"2015","journal-title":"Arch Dis Child"},{"issue":"9","key":"10.1016\/j.ejpn.2014.11.012_bib22","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1136\/jmg.2007.048934","article-title":"The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management","volume":"44","author":"Tan","year":"2007","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.ejpn.2014.11.012_bib23","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":"164A","author":"Vanderver","year":"2014","journal-title":"Am J Med Genet A"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379814001871?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379814001871?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T19:56:16Z","timestamp":1537991776000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379814001871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S1090379814001871"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2014.11.012","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical presentation of PTEN mutations in childhood in the absence of family history of\u00a0Cowden syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2014.11.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}