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
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
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Yang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Luyckx I et al.
European Journal of Human Genetics : Ejhg, 2019
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
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis.
Timberlake AT et al.
Human Genome Variation, 2018
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
Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis.
Verlut I et al.
The Journal of Craniofacial Surgery, 0
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