Associated Papers
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Engel C et al.
European Journal of Human Genetics : Ejhg, 2025
40562808 (PubMed )
Supplement: 41431_2025_1884_MOESM2_ESM.xlsx › Supp_data_2
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
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
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F et al.
Molecular Genetics & Genomic Medicine, 2022
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.
Priolo M et al.
Genes, 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
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
Timberlake AT et al.
Elife, 2016
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