Associated Papers
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H et al.
The Journal of Experimental Medicine, 2020
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
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