Associated Papers
Two Brothers from Macedonia with Gitelman Syndrome.
Janchevska A et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.
Zieg J et al.
Frontiers in Pediatrics, 2023
Exome-based preconception carrier testing for consanguineous couples in China.
He Y et al.
Prenatal Diagnosis, 2021
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Zhong F et al.
Journal of Endocrinological Investigation, 2019
Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.
Gug C et al.
Therapeutics and Clinical Risk Management, 2018
Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Tseng MH et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
Godefroid N et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2006
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