New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000 –3000) autosomal-dominant disorder with high risk of venous thromboembolis...

Source: BMC Medical Genetics - April 6, 2020 Category: Genetics & Stem Cells Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya Tags: Case report Source Type: research