{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:11:33Z","timestamp":1761718293933},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on a male patient with a submicroscopic 1.21\u2009Mb <jats:italic>de novo<\/jats:italic> deletion at 12q21.33\u2013q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q <jats:italic>de novo<\/jats:italic> deletion including this segment have been reported; our case represents the smallest <jats:italic>de novo<\/jats:italic> deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes <jats:italic>BTG1<\/jats:italic> and <jats:italic>LOC256021<\/jats:italic>, and partial deletion of <jats:italic>DCN<\/jats:italic>. We propose that <jats:italic>BTG1<\/jats:italic> is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21\u2013q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36356","type":"journal-article","created":{"date-parts":[[2013,12,21]],"date-time":"2013-12-21T00:55:38Z","timestamp":1387587338000},"page":"796-800","source":"Crossref","is-referenced-by-count":7,"title":["Clinical characteristics in patients with interstitial deletions of chromosome region 12q21\u2013q22 and identification of a critical region associated with keratosis pilaris"],"prefix":"10.1002","volume":"164","author":[{"given":"Almundher","family":"Al\u2010Maawali","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto 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