Background The natural history and genotype–phenotype correlation of congenital
antithrombin (AT) deficiency in children are unknown. Objectives To describe the clinical …

Background Congenital antithrombin (AT) deficiency, which arises from various SERPINC1
defects, is an autosomal-dominant thrombophilic disorder associated with a high risk of …

Introduction Hereditary antithrombin (AT) deficiency is an autosomal dominant thrombophilic
disorder. Guidelines do not support routine testing of children based on personal or familial …

Background Congenital antithrombin deficiency is an autosomal dominant disease that
results in deep venous thrombosis and pulmonary embolism, which is mainly caused by …

Introduction Antithrombin deficiency is associated with increased risk of venous
thromboembolism (VTE). We aimed to identify variants causing antithrombin deficiency in a …

In this study we report the largest descriptive cohort of congenital antithrombin (AT)
deficiency in children, its clinical presentation, molecular basis and genotype‐phenotype …

Background Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT
deficiency, OMIM# 613118) is a relatively rare (1: 2000–3000) autosomal-dominant disorder …

Introduction Inherited antithrombin (AT) deficiency is a heterogeneous disease. Due to low
prevalence, only a few studies are available concerning genotype-phenotype associations …

Background Antithrombin (AT) is the main physiological anticoagulant involved in
hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease …

Antithrombin deficiency, the most severe congenital thrombophilia, might be
underestimated, as some pathogenic variants are not detected by routine functional …