Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome-Reference-Cited by-同舟云学术

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Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

Published:2005-12 Issue:6 Volume:58 Page:1269-1273
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Bettinelli Alberto,Borsa Nicolò,Syrén Marie-Louise,Mattiello Camilla,Coviello Domenico,Edefonti Alberto,Giani Marisa,Travi Maurizio,Tedeschi Silvana

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference31 articles.

1. Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome

2. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

3. Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK

4. Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p

5. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Variability of HUPRA Syndrome—A Case Report;Kidney and Dialysis;2023-04-26

2. The genetic spectrum of Gitelman(-like) syndromes;Current Opinion in Nephrology & Hypertension;2022-07-11

3. Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree;Genes;2021-03-05

4. Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency;CEN Case Reports;2020-06-06

5. Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome;J KOREAN MED SCI;2016

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