Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation

Gitelman syndrome is a rare, recessively inherited disease characterized by chronic hypokalemia and hypomagnesemia as a result of defective electrolyte co-transport at the level of the distal convoluted tubule of the kidney. Here, we present the first report of a patient with Gitelman syndrome who d...

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Bibliografiske detaljer
Udgivet i:NPJ Genom Med
Main Authors: Chan, Jason Yongsheng, Toh, Ming Ren, Chong, Siao Ting, Ishak, Nur Diana Binte, Kolinjivadi, Arun Mouli, Chan, Sock Hoai, Lee, Elizabeth, Boot, Arnoud, Shao-Tzu, Li, Chew, Min-Hoe, Ngeow, Joanne
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Brief Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7501863/
https://ncbi.nlm.nih.gov/pubmed/33024574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00146-9
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