A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

@article{Loeys2005ASO,
  title={A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2},
  author={Bart L. Loeys and Junji Chen and Enid R Neptune and Daniel P. Judge and Megan Podowski and Tammy M. Holm and Jennifer Meyers and Carmen C. Leitch and Nicholas Katsanis and N A Sharifi and Fei Xu and Loretha A Myers and Philip J. Spevak and Duke E. Cameron and Julie De Backer and Jan Hellemans and Yan Chen and Elaine C. Davis and Catherine L. Webb and Wolfram Kress and Paul J. Coucke and Daniel Rifkin and Anne De Paepe and Harry C. Dietz},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={275-281}
}
We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor β receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFβ signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered… 
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