Two Brothers from Macedonia with Gitelman Syndrome

Two Brothers from Macedonia with Gitelman Syndrome

Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, b...

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Bibliographic Details
Main Authors:	Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D
Format:	Article
Language:	English
Published:	Sciendo 2023-07-01
Series:	Balkan Journal of Medical Genetics
Subjects:	gitelman syndrome hypokalemia hypomagnesemia hypocalciuria slc12a3
Online Access:	https://doi.org/10.2478/bjmg-2023-0009

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