Open access
Jan 2026
The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome
Distinct genotype–phenotype associations exist among LDS subtypes, and TGFBR1 and TGFBR2 variants are associated with a greater burden of aggressive vascular disease, whereas SMAD3 variants are linked to mitral valve disease, peripheral neuropathy, and osteoarthritis.
Hussein Abdul Nabi, L. Dreher, Jack Hartnett et al.
· Human Mutation · 0 citations