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
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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