Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS i...

Source: BMC Medical Genetics - August 24, 2020 Category: Genetics & Stem Cells Authors: Soraya Gholizad-kolveiri, Nakysa Hooman, Rasoul Alizadeh, Rozita Hoseini, Hasan Otukesh, Saeed Talebi and Mansoureh Akouchekian Tags: Case report Source Type: research