{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T16:48:43Z","timestamp":1770137323397,"version":"3.49.0"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>In the March issue of the Journal in 2012, we reported on a girl with Langer\u2010Giedion syndrome (LGS) phenotype and a 7.5\u2009Mb interstitial deletion at 8q23.3q24.13, encompassing the <jats:italic>EXT1<\/jats:italic>, but not the <jats:italic>TRPS1<\/jats:italic> gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the <jats:italic>RAD21<\/jats:italic> gene, which is located downstream of the <jats:italic>TRPS1<\/jats:italic> gene, are the cause of Cornelia de Lange syndrome\u20104. Considering that the interstitial deletion in our patient included the <jats:italic>RAD21<\/jats:italic> and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome\u20104 caused by heterozygous deletions of chromosome 8q24. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36974","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:56:14Z","timestamp":1429674974000},"page":"1426-1427","source":"Crossref","is-referenced-by-count":7,"title":["Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]"],"prefix":"10.1002","volume":"167","author":[{"given":"Nina","family":"Pereza","sequence":"first","affiliation":[{"name":"Department of Biology and Medical Genetics Faculty of medicine, University of Rijeka Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sre\u0107ko","family":"Severinski","sequence":"additional","affiliation":[{"name":"Department of Intensive Care, Neurology and Metabolic Diseases Clinics for Children's Diseases, Clinical Hospital Centre Rijeka Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa\u0161a","family":"Ostoji\u0107","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics Faculty of medicine, University of Rijeka Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Volk","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics Institute of Medical Genetics, UMC Ljubljana Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ale\u0161","family":"Maver","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics Institute of Medical Genetics, UMC Ljubljana Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina Baraba","family":"Dekani\u0107","sequence":"additional","affiliation":[{"name":"Department of Intensive Care, Neurology and Metabolic Diseases Clinics for Children's Diseases, Clinical Hospital Centre Rijeka Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miljenko","family":"Kapovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics Faculty of medicine, University of Rijeka Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics Institute of Medical Genetics, UMC Ljubljana Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.019"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01271.x"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22430"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32347"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.12.045"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35201"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10845"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36974","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36974","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36974","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:47:57Z","timestamp":1696643277000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.a.36974"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36974","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}