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

• المؤلفون الرئيسيون: 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
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2021
• الموضوعات: Science::Medicine; Cancer Genetics; Genetics Research
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/146678

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...