Gitelman syndrome

A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

M. Imran Naseer, Muthaffar, O. Yousef, Rasool, M., Abdulkareem, A., Jafri, M. Alam, Pushparaj, P. Natesan, Kalamegam, G., Chaudhary, A. G., and Qahtani, M. H. Al, “A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family”, Genetics and Molecular Research, vol. 17, no. 1, 2018.

Clinical and genetic analyses of Chinese patients with Gitelman syndrome

M. Miao, Zhao, C. Q., Wang, X. L., Shan, Z. Y., Miao, M., Zhao, C. Q., Wang, X. L., and Shan, Z. Y., “Clinical and genetic analyses of Chinese patients with Gitelman syndrome”, vol. 15, p. -, 2016.

To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was diagnosed based on medical history, clinical manifestations, laboratory test results, and imaging data.

Subscribe to Gitelman syndrome