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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Doyle AJ, et al. Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023332 Free PMC article.
Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T. Kosaki K, et al. Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. doi: 10.1002/ajmg.a.31006. Am J Med Genet A. 2006. PMID: 16333834 No abstract available.