Article
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cold Spring Harbor molecular case studies - 1 Jul 2017
Cousin Margot A, Zimmermann Michael T, Mathison Angela J, Blackburn Patrick R, Boczek Nicole J, Oliver Gavin R, Lomberk Gwen A, Urrutia Raul A, Deyle David R, Klee Eric W
Abstract excerpt
TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. Because of the phenotypic overlap of these disorders, panel-based genetic testing is frequently used to confirm the clinical findings....
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