Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to describe...

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Detalles Bibliográficos
Autores principales: García-Castaño, Alejandro, Gómez-Conde, Sara, Gondra, Leire, Herrero, María, Aguirre, Mireia, de la Hoz, Ana-Belén, Castaño, Luis, Madariaga, Leire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400606/
https://www.ncbi.nlm.nih.gov/pubmed/37537162
http://dx.doi.org/10.1038/s41598-023-38179-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400606/
https://www.ncbi.nlm.nih.gov/pubmed/37537162
http://dx.doi.org/10.1038/s41598-023-38179-6

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