{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T09:41:47Z","timestamp":1790329307050,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"European Union's Seventh Framework Programme for research, technological development and demonstration","award":["316289"],"award-info":[{"award-number":["316289"]}]}],"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":[[2017,11]]},"DOI":"10.1016\/j.ejmg.2017.08.010","type":"journal-article","created":{"date-parts":[[2017,8,12]],"date-time":"2017-08-12T06:32:07Z","timestamp":1502519527000},"page":"589-594","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray"],"prefix":"10.1016","volume":"60","author":[{"given":"Feodora","family":"Stipoljev","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danka","family":"Miric-Tesanic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomislav","family":"Hafner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Barbalic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Logara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruzica","family":"Lasan-Trcic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Vicic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romana","family":"Gjergja-Juraski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2017.08.010_bib1","doi-asserted-by":"crossref","first-page":"3100","DOI":"10.1002\/ajmg.a.36783","article-title":"Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot","volume":"164","author":"Baban","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"10.1016\/j.ejmg.2017.08.010_bib2","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1159\/000287252","article-title":"First trimester prenatal diagnosis of Okihiro syndrome","volume":"27","author":"Becker","year":"2010","journal-title":"Fetal diagn. Ther."},{"key":"10.1016\/j.ejmg.2017.08.010_bib3","doi-asserted-by":"crossref","first-page":"e102","DOI":"10.1136\/jmg.2004.019505","article-title":"Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum","volume":"41","author":"Borozdin","year":"2004","journal-title":"J.\u00a0Med. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2017.08.010_bib4","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1002\/humu.9502","article-title":"Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay","volume":"28","author":"Borozdin","year":"2007","journal-title":"Hum. Mutat."},{"issue":"12","key":"10.1016\/j.ejmg.2017.08.010_bib5","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1002\/pd.4209","article-title":"The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature","volume":"33","author":"Callaway","year":"2013","journal-title":"Prenat. Diagn"},{"issue":"4","key":"10.1016\/j.ejmg.2017.08.010_bib6","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/ng.2899","article-title":"A\u00a0SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP","volume":"46","author":"Helsmoortel","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2017.08.010_bib7","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.pediatrneurol.2012.04.013","article-title":"Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis","volume":"47","author":"Kikuchi","year":"2012","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ejmg.2017.08.010_bib8","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1172\/JCI7302","article-title":"Dolichol phosphate mannose syntahase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)","volume":"105","author":"Kim","year":"2000","journal-title":"J.\u00a0Clin. Invest"},{"issue":"3","key":"10.1016\/j.ejmg.2017.08.010_bib9","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/humu.20215","article-title":"SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders","volume":"26","author":"Kohlhase","year":"2005","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.ejmg.2017.08.010_bib10","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng1707","article-title":"Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart","volume":"38","author":"Koshiba-Takeuchi","year":"2006","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2017.08.010_bib11","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1002\/ajmg.a.37641","article-title":"Additional Data on the Clinical Phenotype of Helsmoortel-Van der Aa Syndrome Associated with a Novel Truncating Mutation in ADNP Gene","volume":"A 170","author":"Krajewska-Walasek","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.08.010_bib12","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/jhg.2016.154","article-title":"Novel KCNB1 mutation associated with non-syndromic intellectual disability","volume":"62","author":"Latypova","year":"2017","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.08.010_bib13","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1007\/s00439-005-0124-7","article-title":"A\u00a0SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome","volume":"119","author":"Miertus","year":"2006","journal-title":"Hum. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2017.08.010_bib14","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1136\/jmedgenet-2014-102444","article-title":"Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein","volume":"51","author":"Pescosolido","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2017.08.010_bib15","doi-asserted-by":"crossref","first-page":"15199","DOI":"10.1038\/srep15199","article-title":"De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing","volume":"5","author":"Saitsu","year":"2015","journal-title":"Sci. Rep."},{"issue":"15","key":"10.1016\/j.ejmg.2017.08.010_bib16","doi-asserted-by":"crossref","first-page":"3005","DOI":"10.1242\/dev.02457","article-title":"The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development","volume":"133","author":"Sakaki-Yumoto","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2017.08.010_bib17","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1002\/pd.3943","article-title":"Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound","volume":"32","author":"Shaffer","year":"2012","journal-title":"Prenat. Diagn"},{"key":"10.1016\/j.ejmg.2017.08.010_bib18","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/ng1276","article-title":"Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex","volume":"36","author":"Sheen","year":"2004","journal-title":"Nat. Genet."},{"issue":"22","key":"10.1016\/j.ejmg.2017.08.010_bib19","doi-asserted-by":"crossref","first-page":"4249","DOI":"10.1242\/dev.140467","article-title":"Functional antagonism of alpha-subunits of Kv channel in developing brain ventricular system","volume":"143","author":"Shen","year":"2016","journal-title":"Development"},{"issue":"2","key":"10.1016\/j.ejmg.2017.08.010_bib20","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.gene.2016.02.019","article-title":"SALL4, the missing link between stem cells, development and cancer","volume":"584","author":"Tatetsu","year":"2016","journal-title":"Gene"},{"issue":"5","key":"10.1016\/j.ejmg.2017.08.010_bib21","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1085\/jgp.201511444","article-title":"A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization","volume":"146","author":"Thiffault","year":"2015","journal-title":"J.\u00a0Gen. Physiol."},{"key":"10.1016\/j.ejmg.2017.08.010_bib22","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/ana.24263","article-title":"De novo KCNB1 mutations in epileptic encephalopathy","volume":"76","author":"Torkamani","year":"2014","journal-title":"Ann. Neurol."},{"issue":"3","key":"10.1016\/j.ejmg.2017.08.010_bib23","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.c.31413","article-title":"The transcriptional regulator ADNP links the BAF (SWI\/SNF) complexes with Autism","volume":"166C","author":"Vandeweyer","year":"2014","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.08.010_bib24","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.pediatrneurol.2011.06.006","article-title":"Clinical neuroimaging features and outcome in molybdenum cofactor deficiency","volume":"45","author":"Vijayakumar","year":"2011","journal-title":"Pediatr. Neurol."},{"issue":"1","key":"10.1016\/j.ejmg.2017.08.010_bib25","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/dvg.20264","article-title":"A\u00a0Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis","volume":"45","author":"Warren","year":"2007","journal-title":"Genesis"},{"issue":"42","key":"10.1016\/j.ejmg.2017.08.010_bib26","doi-asserted-by":"crossref","first-page":"16438","DOI":"10.1073\/pnas.0701014104","article-title":"A\u00a0gene regulatory network in mouse embryonic stem cells","volume":"104","author":"Zhou","year":"2007","journal-title":"Proc. Natl. Acad. Sci."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217300460?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217300460?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:44:52Z","timestamp":1761709492000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217300460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":26,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S1769721217300460"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.08.010","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.08.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}