A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

ConclusionIn conclusion, we identified a novelSMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background ofSMAD6‐related BAV.

Source: Molecular Genetics & Genomic Medicine - March 7, 2019 Category: Genetics & Stem Cells Authors: Jong Eun Park, Jin Seok Park, Shin Yi Jang, Seok Hee Park, Jong ‐Won Kim, Chang‐Seok Ki, Duk‐Kyung Kim Tags: ORIGINAL ARTICLE Source Type: research