{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:26:30Z","timestamp":1771028790670,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T00:00:00Z","timestamp":1430784000000},"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":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Small chromosomal duplications involving 7q36.3 have rarely been reported. This clinical report describes four individuals from a three\u2010generation family with agenesis of the corpus callosum (ACC) and a 0.73\u2009Mb duplication of 7q36.3 detected by array CGH. The 7q36.3 duplication involves two genes: RNA Binding Motif Protein 33 (<jats:italic>RBM33<\/jats:italic>) and Sonic Hedgehog (<jats:italic>SHH<\/jats:italic>). Most affected family members had mild intellectual disability or borderline intellectual functioning, macrocephaly, a broad forehead, and widely spaced eyes. Two individuals had a Chiari type I malformation. This is the first family reported with ACC associated with a small duplication of these genes. While we cannot establish causation for the relationship between any single gene and the ACC in this family, there is a role for <jats:italic>SHH<\/jats:italic> in the formation of the corpus callosum through correct patterning and assembly of the commissural plate, and these data concur with vertebrate studies showing that a gain of SHH expands the facial primordium. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37143","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T22:48:58Z","timestamp":1430866138000},"page":"2201-2208","source":"Crossref","is-referenced-by-count":12,"title":["A familial 7q36.3 duplication associated with agenesis of the corpus callosum"],"prefix":"10.1002","volume":"167","author":[{"given":"Keith","family":"Wong","sequence":"first","affiliation":[{"name":"The University of Newcastle School of Medicine and Public Health Newcastle New South Wales 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