Associated Papers
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.
Bruenger CMH et al.
European Journal of Human Genetics : Ejhg, 2025
40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Luyckx I et al.
Journal of Medical Genetics, 2024
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
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
Tan HL et al.
Human Mutation, 2012
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