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

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 eviden...

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Veröffentlicht in:	Nature genetics 2005-03, Vol.37 (3), p.275-281
Hauptverfasser:	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, Backer, Julie De, Hellemans, Jan, Chen, Yan, Davis, Elaine C, Webb, Catherine L, Kress, Wolfram, Coucke, Paul, Rifkin, Daniel B, De Paepe, Anne M, Dietz, Harry C
Format:	Artikel
Sprache:	eng
Schlagworte:	Activin Receptors, Type I - genetics Agriculture Amino Acid Sequence Animal Genetics and Genomics Aortic aneurysms Biological and medical sciences Biomedicine Birth defects Bone Development - genetics Cancer Research Cardiology Cardiovascular disease Cardiovascular diseases Cardiovascular System - growth & development Child, Preschool Chronic diseases Cognition Disorders - genetics Complex syndromes Congenital diseases Connective tissue Coronary vessels Face Female Fundamental and applied biological sciences. Psychology Gene Function Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Growth factor receptors Growth factors Health aspects Human Genetics Humans Intellectual disabilities Kinases Kinetics letter Male Medical genetics Medical sciences Medicine Molecular Sequence Data Mutation Phenotype Protein-Serine-Threonine Kinases Receptors, Transforming Growth Factor beta - genetics Risk factors Sequence Homology, Amino Acid Skull - growth & development Syndrome Transforming growth factors
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