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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.
Nat Genet. 2012.
PMID: 22772368
Free PMC article.
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.
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