Associated Papers
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
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
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis.
Timberlake AT et al.
Human Genome Variation, 2018
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Timberlake AT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
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