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De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review
Authors:P.Y. Billie Au  Hilary E. Racher  John M. Graham Jr.  Nancy Kramer  R. Brian Lowry  Jillian S. Parboosingh  A. Micheil Innes  FORGE Canada Consortium
Affiliation:1. Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Alberta, Canada;2. Molecular Genetics Laboratory, Alberta Children's Hospital, University of Calgary, Alberta, Canada;3. Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California;4. Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Alberta, Canada;5. Alberta Children's Hospital, Research Institute for Child and Maternal Health, University of Calgary, Alberta, Canada
Abstract:
Keywords:Shprintzen‐Goldberg  craniosynostosis  aortic diseases  Marfan  Loeys‐Dietz  transforming growth factor beta  SKI protein  human
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