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Jack Hartnett

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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