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30 August 2024 : Case report  China

Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient

Rare disease

Yan Zhang1AE, Hao Yu2BF, Jun Li1B, Ling Cheng ORCID logo1BEFG*

DOI: 10.12659/AJCR.944909

Am J Case Rep 2024; 25:e944909

Figure 1. Next-generation sequencing analysis detected a compound heterozygous mutation in the SLC12A3 gene. The mutation was validated using Sanger assay, with c.179C>T in exon 1 (A) and c.961C>T in exon 7 (B) of the SLC12A3 gene.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923