Hussein Abdul Nabi

The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome

Background Loeys–Dietz syndrome (LDS) is a heritable connective tissue disorder caused by pathogenic variants in genes of the transforming growth factor‐β (TGF‐β) signaling pathway. Although genotype–phenotype correlations have been suggested, comprehensive comparative data across LDS subtypes remain limited. Improved...