Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroi...

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature

O Koca, MT Alay, A Murt, A Kalayci Yigin, M Seven… - CEN Case Reports, 2024 - Springer
Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with
hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common …
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