{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T11:50:10Z","timestamp":1768477810846,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,28]],"date-time":"2017-06-28T00:00:00Z","timestamp":1498608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped\u2010B\u2010like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and\/or dysmorphic features.<\/jats:p>","DOI":"10.1002\/ccr3.1010","type":"journal-article","created":{"date-parts":[[2017,6,29]],"date-time":"2017-06-29T00:24:47Z","timestamp":1498695887000},"page":"1277-1283","source":"Crossref","is-referenced-by-count":8,"title":["Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6765-2183","authenticated-orcid":false,"given":"Elena","family":"Infante","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gorka","family":"Alkorta\u2010Aranburu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Areeg","family":"El\u2010Gharbawy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"},{"name":"University of Pittsburgh School of Medicine Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32016"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1967.tb21413.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12499"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11316"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/511888"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.019"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1364"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1779"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1363"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22430"},{"key":"e_1_2_10_12_1","unstructured":"Deardorff M. A. S. E.Noon andI. D.Krantz.2005.Cornelia de Lange Syndrome.inR. A.Pagon M. P.Adam H. H.Ardinger et\u00a0al. eds. GeneReviews\u00ae[Internet]. Seattle (WA): University of Washington Seattle; 1993\u20102016. Available at:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1104\/(Updated 28 January 2016)."},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10066"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101477"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22761"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30137"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31502"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2012.02540.x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34014"},{"key":"e_1_2_10_20_1","first-page":"5988","article-title":"Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome","volume":"7","author":"Parisi L.","year":"2015","journal-title":"Ment. 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