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References

These sources were used to develop the Genetics Home Reference condition summary on Schinzel-Giedion syndrome.

Al-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W. Clinical and radiological findings in Schinzel-Giedion syndrome. Eur J Pediatr. 2008 Dec;167(12):1399-407. doi: 10.1007/s00431-008-0683-4. Epub 2008 May 7. PubMed citation
Atlas of Genetics and Cytogenetics in Oncology and Haematology: Schinzel-Giedion Midface Retraction Syndrome
Genetic and Rare Diseases Information Center: Schinzel Giedion syndrome
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. PubMed citation
Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet A. 2008 May 15;146A(10):1299-306. doi: 10.1002/ajmg.a.32277. PubMed citation
Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. Clin Genet. 2011 Apr;79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x. PubMed citation

Reviewed: January 2012

Published: May 13, 2013