Associated Papers
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.
Karl S et al.
Npj Genomic Medicine, 2025
40133303 (PubMed )
Supplement: 41525_2025_484_MOESM1_ESM.pdf
Clinical interest of molecular study in cases of isolated midline craniosynostosis.
Di Rocco F et al.
European Journal of Human Genetics : Ejhg, 2023
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 Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
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_MOESM3_ESM.xlsx › Table_S2
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