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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 Mao
Published 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.
Keyphrases
  • early onset
  • genome wide
  • copy number
  • case report
  • gene expression
  • genome wide identification
  • dna methylation