Article
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nature genetics - 8 Jul 2012
Lindsay Mark E, Schepers Dorien, Bolar Nikhita Ajit, Doyle Jefferson J, Gallo Elena, Fert-Bober Justyna, Kempers Marlies J E, Fishman Elliot K, Chen Yichun, Myers Loretha, Bjeda Djahita, Oswald Gretchen, Elias Abdallah F, Levy Howard P, Anderlid Britt-Marie, Yang Margaret H, Bongers Ernie M H F, Timmermans Janneke, Braverman Alan C, Canham Natalie, Mortier Geert R, Brunner Han G, Byers Peter H, Van Eyk Jennifer, Van Laer Lut, Dietz Harry C, Loeys Bart L
Abstract excerpt
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease. Here, we report heterozygous mutations or deletions in the gene encoding...
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