Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Increased transforming growth factor beta (TGF-β) signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS)(1-4). However, the location and character of many of the causal mutations in LDS would int...

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Bibliografische gegevens
Hoofdauteurs: Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3545695/
https://ncbi.nlm.nih.gov/pubmed/23023332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2421
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