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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501863/
https://www.ncbi.nlm.nih.gov/pubmed/33024574
http://dx.doi.org/10.1038/s41525-020-00146-9

Ejemplares similares

Ejemplares similares