Clinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report.
Yan QiaoJinghong ZhaoJi WuLewei CaoGuiqin SongJing-Xin MaoPublished in: Medicine (2024)
The novel c.1444-10(IVS11)G > A variation may be a splicing mutation. The compound heterozygous mutations of the SLC12A3 gene may be the pathogenic cause of this GS pedigree.