{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:55:43Z","timestamp":1792079743393,"version":"4.4.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2016,10]]},"DOI":"10.1016\/j.ejmg.2016.08.006","type":"journal-article","created":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T15:14:02Z","timestamp":1473434042000},"page":"493-498","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?"],"prefix":"10.1016","volume":"59","author":[{"given":"Caroline","family":"Scholz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Steinemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"M\u00e4lzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy","family":"Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mine","family":"Arslan-Kirchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Illig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"Schmidtke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"Stuhrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2016.08.006_bib1","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<501::AID-AJMG11>3.0.CO;2-P","article-title":"Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation","volume":"64","author":"Ahlbom","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib2","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/humu.22729","article-title":"Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome","volume":"36","author":"Bacrot","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2016.08.006_bib3","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1136\/adc.67.10.1286","article-title":"Centiles for adult head circumference","volume":"67","author":"Bushby","year":"1992","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ejmg.2016.08.006_bib4","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/cge.12101","article-title":"Autism spectrum disorder in the genetics clinic: a review","volume":"83","author":"Carter","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib5","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1038\/ng.3092","article-title":"Refining analyses of copy number variation identifies specific genes associated with developmental delay","volume":"46","author":"Coe","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib6","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/367455a0","article-title":"Inactivation of the N-CAM gene in mice results in size reduction of the olfactory bulb and deficits in spatial learning","volume":"367","author":"Cremer","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2016.08.006_bib7","unstructured":"Diagnostic and Statistical Manual of Mental Disorders, fourth ed., 1994."},{"key":"10.1016\/j.ejmg.2016.08.006_bib8","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1002\/glia.20640","article-title":"GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system","volume":"56","author":"Favre-Kontula","year":"2008","journal-title":"Glia"},{"key":"10.1016\/j.ejmg.2016.08.006_bib9","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/ajmg.a.33176","article-title":"A\u00a0de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21","volume":"152A","author":"Haldeman-Englert","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"10.1016\/j.ejmg.2016.08.006_bib10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/2040-2392-2-1","article-title":"A\u00a0noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism","volume":"2","author":"Hussman","year":"2011","journal-title":"Mol. autism"},{"key":"10.1016\/j.ejmg.2016.08.006_bib11","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/BF00204163","article-title":"Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion","volume":"87","author":"Korenberg","year":"1991","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib12","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.ajhg.2011.02.009","article-title":"Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism","volume":"88","author":"Lopez-Hernandez","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib13","first-page":"278","article-title":"Autism spectrum disorders\u2013a genetics review, Genetics in medicine","volume":"13","author":"Miles","year":"2011","journal-title":"Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib14","first-page":"156","article-title":"Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology, American journal of medical genetics. Part C","volume":"166C","author":"Mirzaa","year":"2014","journal-title":"Seminars Med. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib15","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/sj.mp.4001691","article-title":"Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression","volume":"10","author":"Molloy","year":"2005","journal-title":"Mol. psychiatry"},{"key":"10.1016\/j.ejmg.2016.08.006_bib16","doi-asserted-by":"crossref","first-page":"e472","DOI":"10.1542\/peds.113.5.e472","article-title":"The genetics of autism","volume":"113","author":"Muhle","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2016.08.006_bib17","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1542\/peds.41.1.106","article-title":"Head circumference from birth to eighteen years. Practical composite international and interracial graphs","volume":"41","author":"Nellhaus","year":"1968","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2016.08.006_bib18","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ejmg.2014.11.004","article-title":"21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders","volume":"58","author":"Petit","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib19","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1038\/ng.2238","article-title":"Common variants at 12q15 and 12q24 are associated with infant head circumference","volume":"44","author":"Taal","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib20","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1034\/j.1600-0447.2002.01323.x","article-title":"An interstitial deletion of the long arm of chromosome 21 in a case of a first episode of psychosis","volume":"106","author":"Takhar","year":"2002","journal-title":"Acta psychiatr. Scand."},{"key":"10.1016\/j.ejmg.2016.08.006_bib21","series-title":"Textbook of Pediatrics","first-page":"253","article-title":"Physical growth and development","author":"Tanner","year":"1978"},{"key":"10.1016\/j.ejmg.2016.08.006_bib22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/jcp.1062","article-title":"The gene PC3(TIS21\/BTG2), prototype member of the PC3\/BTG\/TOB family: regulator in control of cell growth, differentiation, and DNA repair?","volume":"187","author":"Tirone","year":"2001","journal-title":"J.\u00a0Cell. physiol."},{"key":"10.1016\/j.ejmg.2016.08.006_bib23","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s100380200076","article-title":"Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression","volume":"47","author":"Wakui","year":"2002","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.08.006_bib24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mcn.2006.01.013","article-title":"Disrupted compartmental organization of axons and dendrites within olfactory glomeruli of mice deficient in the olfactory cell adhesion molecule, OCAM","volume":"32","author":"Walz","year":"2006","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.ejmg.2016.08.006_bib25","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.biocel.2011.11.020","article-title":"NCAM2\/OCAM\/RNCAM: cell adhesion molecule with a role in neuronal compartmentalization","volume":"44","author":"Winther","year":"2012","journal-title":"Int. J. Biochem. cell Biol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216302488?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216302488?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:27Z","timestamp":1761709407000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216302488"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":25,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["S1769721216302488"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.08.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.08.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}