30 August 2024
: Case report
Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient
Rare disease
Yan Zhang1AE, Hao Yu2BF, Jun Li1B, Ling Cheng
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.