Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference18 articles.
1. A salt wasting syndrome in infancy;DB Cheek;Arch Dis Child,1958
2. Clinical and molecular features of type 1 pseudohypoaldosteronism;FG Riepe;Horm Res,2009
3. Mechanisms of type I and type II pseudohypoaldosteronism;SB Furgeson;J Am Soc Nephrol,2010
4. Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1;EL Hubert;J Am Soc Nephrol,2011
5. A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1;M Dirlewanger;Am J Physiol Endocrinol Metab,2011
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1. The Epithelial Sodium Channel—An Underestimated Drug Target;International Journal of Molecular Sciences;2023-04-24
2. Diagnostic and management considerations in pseudohypoaldosteronism type 1b;BMJ Case Reports;2022-01
3. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town;Italian Journal of Pediatrics;2021-06-16
4. Il neonato che “sa di sale”;Medico e Bambino;2021-02-25
5. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1;Journal of Pediatric Endocrinology and Metabolism;2019-09-25
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