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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...
Tallennettuna:
| Julkaisussa: | NPJ Genom Med |
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| Päätekijät: | , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group UK
2020
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| Aiheet: | |
| Linkit: | 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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