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
The Molecular Genetics of Marfan Syndrome.
Du Q et al.
International Journal of Medical Sciences, 2021
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Aubart M et al.
European Journal of Human Genetics : Ejhg, 2018
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