Associated Papers
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP et al.
Human Molecular Genetics, 2024
38538566 (PubMed )
Supplement: supplementary_material_ddae044.pdf
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
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