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

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 none comp...

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Detalles Bibliográficos
Autores principales: Gholizad-kolveiri, Soraya, Hooman, Nakysa, Alizadeh, Rasoul, Hoseini, Rozita, Otukesh, Hasan, Talebi, Saeed, Akouchekian, Mansoureh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446132/
https://www.ncbi.nlm.nih.gov/pubmed/32838746
http://dx.doi.org/10.1186/s12881-020-01097-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446132/
https://www.ncbi.nlm.nih.gov/pubmed/32838746
http://dx.doi.org/10.1186/s12881-020-01097-9

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