Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II-Reference-Cited by-同舟云学术

Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II

Published:2013-06 Issue:3 Volume:55 Page:371-373
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

Fretzayas Andreas¹,Gole Evangelia¹,Attilakos Achilleas¹,Daskalaki Anna¹,Nicolaidou Polyxeni¹,Papadopoulou Anna¹

Affiliation:

1. Third Department of Pediatrics; Medical School; University General Hospital "Attikon"; University of Athens; Athens; Greece

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.2012.03716.x/fullpdf

Reference10 articles.

1. Thick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSR;Gamba;Pflugers Arch.,2008

2. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome;Brochard;Nephrol. Dial. Transplant.,2009

3. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome;Finer;J. Pediatr.,2003

4. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies;Peters;Am. J. Med.,2002

5. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity;The International Group for Bartter-Like Syndromes;Hum. Mol. Genet.,1997

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