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...
| المؤلفون الرئيسيون: | , , , , , , , , |
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| التنسيق: | مقال |
| اللغة: | English |
| منشور في: |
Sciendo
2023-07-01
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| سلاسل: | Balkan Journal of Medical Genetics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.2478/bjmg-2023-0009 |