Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
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DOI: 10.1038/s41439-019-0038-x
Abstract: Loeys–Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-related genes and is characterized by aortic aneurysm and dissection. We report an LDS patient with a de novo missense variant of TGFBR1 [c.1126A>G,… read more here.
Keywords: aortic aneurysm; loeys dietz; loss function; variant tgfbr1 ... See more keywords