Associated Papers
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
32499606 (PubMed )
Supplement: 41436_2020_817_MOESM5_ESM.xlsx › Table_S4
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Kloth K et al.
Human Genetics, 2019
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