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References

These sources were used to develop the Genetics Home Reference condition summary on supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000 Dec;8(12):955-63. PubMed citation
Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet. 2010 Mar;18(3):317-23. doi: 10.1038/ejhg.2009.181. Epub 2009 Oct 21. PubMed citation
Rodriguez-Revenga L, Badenas C, Carrió A, Milà M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. PubMed citation
Tassabehji M, Urban Z. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods Mol Med. 2006;126:129-56. PubMed citation
Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002 Jul;71(1):30-44. Epub 2002 May 6. PubMed citation

Reviewed: May 2012

Published: May 13, 2013