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Article

Various phenotypes of disease associated with mutated DGKE gene.

European journal of medical genetics - 1 Aug 2020

Bezdíčka Martin, Pavlíček Petr, Bláhová Květa, Háček Jaromír, Zieg Jakub

Abstract excerpt

Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highly rare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer only a predisposition to the disease. Most variants causing atypical haemolytic uraemic syndrome were identified in genes encoding proteins...

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PMID: 32413569
DOI: 10.1016/j.ejmg.2020.103953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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