{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:07:38Z","timestamp":1791115658646,"version":"4.1.0"},"reference-count":15,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001810","name":"Research Promotion Foundation","doi-asserted-by":"crossref","award":["Y\u0393\u0395\u0399\u0391\/\u0394Y\u0393\u0395\u0399\u0391\/0308(\u0392\u0399\u0395)\/18"],"award-info":[{"award-number":["Y\u0393\u0395\u0399\u0391\/\u0394Y\u0393\u0395\u0399\u0391\/0308(\u0392\u0399\u0395)\/18"]}],"id":[{"id":"10.13039\/501100001810","id-type":"DOI","asserted-by":"crossref"}]}],"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":[[2013,6]]},"DOI":"10.1016\/j.ejmg.2013.03.005","type":"journal-article","created":{"date-parts":[[2013,3,23]],"date-time":"2013-03-23T16:45:19Z","timestamp":1364057119000},"page":"314-318","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["263.4\u00a0kb deletion within the TCF4 gene consistent with Pitt\u2013Hopkins syndrome, inherited from a mosaic parent with normal phenotype"],"prefix":"10.1016","volume":"56","author":[{"given":"Ludmila","family":"Kousoulidou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Tanteles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Moutafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Sismani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippos C.","family":"Patsalis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violetta","family":"Anastasiadou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2013.03.005_bib1","first-page":"182","article-title":"A\u00a0syndrome of mental retardation, wide mouth and intermittent overbreathing","volume":"14","author":"Pitt","year":"1978","journal-title":"Aust. Paediatr. J."},{"key":"10.1016\/j.ejmg.2013.03.005_bib2","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/humu.21639","article-title":"Novel comprehensive diagnostic strategy in Pitt\u2013Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum","volume":"33","author":"Whalen","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2013.03.005_bib3","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000335287","article-title":"Pitt\u2013Hopkins syndrome","volume":"2","author":"Peippo","year":"2012","journal-title":"Mol. Syndromol"},{"key":"10.1016\/j.ejmg.2013.03.005_bib4","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/515582","article-title":"Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt\u2013Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction","volume":"80","author":"Amiel","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.03.005_bib5","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1093\/hmg\/ddm099","article-title":"Severe mental retardation with breathing abnormalities (Pitt\u2013Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4","volume":"16","author":"Brockschmidt","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2013.03.005_bib6","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/515583","article-title":"Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt\u2013Hopkins syndrome)","volume":"80","author":"Zweier","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.03.005_bib7","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/humu.20935","article-title":"Mutational, functional, and expression studies of the TCF4 gene in Pitt\u2013Hopkins syndrome","volume":"30","author":"de Pontual","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2013.03.005_bib8","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.ajhg.2009.10.004","article-title":"CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt\u2013Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila","volume":"85","author":"Zweier","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.03.005_bib9","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1159\/000334065","article-title":"From karyotyping to array-CGH in prenatal diagnosis","volume":"135","author":"Lichtenbelt","year":"2011","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.ejmg.2013.03.005_bib10","doi-asserted-by":"crossref","first-page":"1536","DOI":"10.1002\/ajmg.a.34070","article-title":"The Pitt\u2013Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria","volume":"155A","author":"Marangi","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2013.03.005_bib11","doi-asserted-by":"crossref","first-page":"e22138","DOI":"10.1371\/journal.pone.0022138","article-title":"Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing","volume":"6","author":"Sepp","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2013.03.005_bib12","doi-asserted-by":"crossref","first-page":"2053","DOI":"10.1002\/ajmg.a.32419","article-title":"Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt\u2013Hopkins syndrome","volume":"146A","author":"Kalscheuer","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2013.03.005_bib13","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s00439-011-1020-y","article-title":"The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions","volume":"130","author":"Hasi","year":"2011","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.03.005_bib14","doi-asserted-by":"crossref","first-page":"E242","DOI":"10.1002\/humu.20859","article-title":"TCF4 deletions in Pitt\u2013Hopkins syndrome","volume":"29","author":"Giurgea","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2013.03.005_bib15","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.ejmg.2010.08.005","article-title":"Mosaic microdeletion 18q21 as a cause of mental retardation","volume":"53","author":"Stavropoulos","year":"2010","journal-title":"Eur. J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213000657?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213000657?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:40:11Z","timestamp":1761709211000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721213000657"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["S1769721213000657"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.03.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"263.4\u00a0kb deletion within the TCF4 gene consistent with Pitt\u2013Hopkins syndrome, inherited from a mosaic parent with normal phenotype","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.03.005","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"}]}}