Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Abstract
Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on the other. In this study, we report two individuals with biallelic missense variants in SMAD6 and a complex cardiac phenotype. Trio exome sequencing in Proband 1, a male who had aortic isthmus stenosis, revealed the homozygous SMAD6...
Paper Details
Title
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Published Date
Apr 8, 2019
Journal
Volume
138
Issue
6
Pages
625 - 634
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