Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene-Reference-Cited by-同舟云学术

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene

Published:2014-02-18 Issue:1 Volume:3 Page:
ISSN:2193-1801
Container-title:SpringerPlus
language:en
Short-container-title:SpringerPlus

Author:

Al-Shibli Amar,Yusuf Madinah,Abounajab Issam,Willems Patrick J

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://link.springer.com/content/pdf/10.1186/2193-1801-3-96.pdf

Reference31 articles.

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2. Briet M, Vargas-Poussou R, Lourdel S, Houillier P, Blanchard A: How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5. Nephron Physiol 2006, 103: 7-13. 10.1159/000090218

3. Brochard K, Boyer O, Blanchard A: Phenotype- genotype correlation in antenatal and neonatal variant of Bartter syndrome. Nephrol Dial Transplant 2009, 24: 1455-1464. 10.1093/ndt/gfn689

4. Coto E, Rodriguez Jeck N, Alvarez V, Stone R, Loris C, Rodriguez M, Fischbach M, Seyberth W, Santos F: A new mutation (intron 9 +1 G > T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 2004, 65: 25-29. 10.1111/j.1523-1755.2004.00388.x

5. Cruz AJ, Castro A: Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation. BMJ Case Rep 2013, 22: 2013.

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4. Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto’s Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations;BioMed Research International;2021-05-10

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