Publication
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Elaine C Davis, Catherine L Webb, Wolfram Kress, Paul Coucke, Daniel B Rifkin, Anne M De Paepe, Harry C Dietz, Bart L Loeys, Junji Chen, Enid R Neptune, Daniel P Judge, Megan Podowski, Tammy Holm, Jennifer Meyers, Carmen C Leitch, Nicholas Katsanis, Neda Sharifi, F Lauren Xu, Loretha A Myers, Philip J Spevak, Duke E Cameron, Julie De Backer, Jan Hellemans, Yan Chen
Nature Genetics, January 2005, Nature
DOI: 10.1038/ng1511