Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome
Abstract Background 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 is a dysregulation in the alternative complement pathway. Mutations in n...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-08-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-020-01097-9 |