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
Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.
Keravnou A et al.
Molecular Genetics & Genomic Medicine, 2020
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L et al.
Genes, 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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