Article

mTOR-activating mutations in <i>RRAGD</i> cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

2021-03-12

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Over the last decaces, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, ±20% of all tubulopathy patients remain without genetic diagnosis. Here, we explore a large multicentric patient cohort with a novel inherited salt-losing tubulopathy, hypomagnesemia and dilated cardiomyopa...

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Literature Corpus work: 56d09c9f-d792-54c3-9f23-eebe8ac56232
DOI: 10.1101/2021.03.11.434334

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mTOR-activating mutations in <i>RRAGD</i> cause kidney tubulopathy and cardiomyopathy (KICA) syndromeDOI 10.1101/2021.03.11.434334Read

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