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

Alexander J. 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 Destrée, Raoul C. Hennekam, Pamela H. Arn, Cynthia J. CurryLut Van Laer, Andrew S. McCallion, Bart L. Loeys, Harry C. Dietz

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