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Mutations in exon 1 of <jats:italic>SKI<\/jats:italic> have recently been identified as being responsible for approximately 90% of reported individuals diagnosed clinically with Shprintzen\u2010Goldberg syndrome. SKI is a known regulator of TGF\u03b2 signaling. Therefore, like Marfan syndrome and Loeys\u2010Dietz syndrome, Shprintzen\u2010Goldberg syndrome is likely caused by deregulated TGF\u03b2 signals, explaining the considerable phenotypic overlap between these three disorders. We describe two additional patients with exon 1 <jats:italic>SKI<\/jats:italic> mutations and review the clinical features and literature of Shprintzen\u2010Goldberg syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36340","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:36:42Z","timestamp":1387485402000},"page":"676-684","source":"Crossref","is-referenced-by-count":20,"title":["De novo exon 1 missense mutations of <i>SKI<\/i> and Shprintzen\u2010Goldberg syndrome: Two new cases and a clinical review"],"prefix":"10.1002","volume":"164","author":[{"given":"P.Y. Billie","family":"Au","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Alberta Children's Hospital University of Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilary E.","family":"Racher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Alberta Children's Hospital University of Calgary Alberta Canada"},{"name":"Molecular Genetics Laboratory, Alberta Children's Hospital University of Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars Sinai Medical Center Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Kramer","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars Sinai Medical Center Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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