Schinzel-Giedion midface retraction syndrome

[1]. Alexander Hoischen, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. [Content Brief]

[2]. Anna M Lehman, et al. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet A. 2008 May 15;146A(10):1299-306. [Content Brief]

[3]. P Labrune, et al. Three new cases of the Schinzel-Giedion syndrome and review of the literature. Am J Med Genet. 1994 Mar 1;50(1):90-3. [Content Brief]