A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3
Abstract
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β...
Paper Details
Title
A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3
Published Date
Mar 6, 2018
Journal
Volume
39
Issue
5
Pages
621 - 634
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