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Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm (2012)

Doyle, A.J. ; Doyle, J.J. ; Bessling, S.L. ; [et al.]

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In: Nature Genetics, 2012, Vol.44, pp.1249-1254

Description: Elevated transforming growth factor (TGF)-beta signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and character of many of the causal mutations in LDS intuitively imply...

ISSN: 1061-4036

Source: NARCIS (National Academic Research and Collaborations Information System)

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