Article
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nature genetics - 1 Mar 2005
Loeys Bart L, Chen Junji, Neptune Enid R, Judge Daniel P, Podowski Megan, Holm Tammy, Meyers Jennifer, Leitch Carmen C, Katsanis Nicholas, Sharifi Neda, Xu F Lauren, Myers Loretha A, Spevak Philip J, Cameron Duke E, De Backer Julie, Hellemans Jan, Chen Yan, Davis Elaine C, Webb Catherine L, Kress Wolfram, Coucke Paul, Rifkin Daniel B, De Paepe Anne M, Dietz Harry C
Abstract excerpt
We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta 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 TGFbeta signal propagation, cells derived...
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