A novel variant in theSLC12A1gene in two families with antenatal Bartter syndrome
Author:
Affiliation:
1. Department of Pediatrics; Aarhus University Hospital; Aarhus Denmark
2. Research Unit for Molecular Medicine; Aarhus University Hospital; Aarhus Denmark
3. Department of Biomedicine; Aarhus University; Aarhus Denmark
Funder
Familien Hede Nielsens Fond
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/apa.13635/fullpdf
Reference26 articles.
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2. The pathogenetic spectrum of Bartter's syndrome;Stein;Kidney Int,1985
3. Rare independent mutations in renal salt handling genes contribute to blood pressure variation;Ji;Nat Genet,2008
4. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects;Seyberth;Pediatr Nephrol,2011
5. Bartter syndrome and its neonatal variant;Proesmans;Eur J Pediatr,1997
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3. Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease;Journal of Pediatric Genetics;2020-07-08
4. Antenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene;Indian Journal of Nephrology;2019
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