Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and Genotype-Phenotype Correlations

摘要

BACKGROUND AND PURPOSE: Hereditary hemorrhagic telangiectasia is an autosomal dominant disease that presents in 10%-20% of patients with various brain vascular malformations. We aimed to report the radiologic features (phenotype) and the genotype-phenotype correlations of brain vascular malformations in hereditary hemorrhagic telangiectasia.