Author

E. Urízar

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Open access Sep 2026

Phenotypic Heterogeneity Among Carriers of the Same Pathogenic Variant in Hereditary Hemorrhagic Telangiectasia

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder primarily caused by pathogenic variants in the ENG and ACVRL1 genes. Although genotype–phenotype correlations are well established at the population level, the degree of phenotypic similarity among relatives sharing t...

E. Urízar, Pablo Solís, Nuria Puente et al. · Genes · 0 citations