A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0869-9.pdf
Reference21 articles.
1. Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens. 2003;12(5):527–32.
2. Cunha TDS, Heilberg IP. Bartter syndrome: causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis. 2018;11:291–301.
3. Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011;26(10):1789–802.
4. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-cl cotransporter. Nat Genet. 1996;12(1):24–30.
5. Akil I, Ozen S, Kandiloglu AR, Ersoy B. A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. Clin Exp Nephrol. 2010;14(3):278–82.
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2. Bartter Syndrome: A Systematic Review of Case Reports and Case Series;Medicina;2023-09-11
3. Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report;Frontiers in Pediatrics;2023-03-30
4. Identification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.;Journal of Advances in Medical and Biomedical Research;2022-01-01
5. Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome;Clinical Nephrology;2021-09-01
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