Mustafa Eren Kaçmaz

Family Tree Mapping of Genetic and Phenotypic Codes of Hereditary Angioedema

Background and Objectives: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a rare autosomal dominant disorder caused by mutations in the SERPING1 gene and is characterized by considerable clinical variability among affected individuals. Although genotype–phenotype correlations have been reported, da...