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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: 2012
主題:
Article
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍