Associated Papers
Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection.
Alghamdi MA et al.
Circulation. Genomic and Precision Medicine, 2024
SMAD6-deficiency in human genetic disorders.
Luyckx I et al.
Npj Genomic Medicine, 2022
36414630 (PubMed )
Supplement: 41525_2022_338_MOESM2_ESM.xlsx › Suppl_Table1
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32499606 (PubMed )
Supplement: 41436_2020_817_MOESM5_ESM.xlsx › Table_S4
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.
Park JE et al.
Molecular Genetics & Genomic Medicine, 2019
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Gillis E et al.
Frontiers in Physiology, 2017
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Gillis E et al.
Frontiers in Physiology, 2017
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