Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

著者: Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling, Samantha Maragh, Mark E. Lindsay, Dorien Schepers, Elisabeth Gillis, Geert Mortier, Tessa Homfray, Kimberly Sauls, Russell A. Norris, Nicholas D Huso, Dan Leahy, David W. Mohr, Mark J. Caulfield, Alan F. Scott, Anne Destrèe, Raoul C. M. Hennekam, Pamela Arn, Cynthia J. Curry, Lut Van Laer, Andrew S. McCallion, Bart Loeys, Harry C. Dietz - Nature Genetics 2012 被引用: 262