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...
Main Authors: | Chan, Jason Yongsheng, Toh, Ming Ren, Chong, Siao Ting, Nur Diana Ishak, Kolinjivadi, Arun Mouli, Chan, Sock Hoai, Lee, Elizabeth, Boot, Arnoud, Shao-Tzu, Li, Chew, Min-Hoe, Ngeow, Joanne |
---|---|
Other Authors: | Lee Kong Chian School of Medicine (LKCMedicine) |
Format: | Journal Article |
Language: | English |
Published: |
2021
|
Subjects: | |
Online Access: | https://hdl.handle.net/10356/146678 |
Similar Items
-
Functional characterisation guides classification of novel BAP1 germline variants
by: Hong, Jing Han, et al.
Published: (2021) -
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
by: Zhang, Zewen, et al.
Published: (2023) -
Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection
by: Kolinjivadi, Arun Mouli, et al.
Published: (2023) -
Predictors of next-generation sequencing panel selection using a shared decision-making approach
by: Courtney, Eliza, et al.
Published: (2020) -
Impact of variant reclassification in cancer predisposition genes on clinical care
by: Chiang, Jianbang, et al.
Published: (2023)