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Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance

Bartter syndrome (BS) is a rare tubulopathy that causes polyuria, hypokalemia, hypochloremic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical, and allelic heterogeneity. Types 1–4 of BS are inherited according to an autosomal recessive p...

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Detalles Bibliográficos
Autores principales: Florea, Laura, Caba, Lavinia, Gorduza, Eusebiu Vlad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9203713/
https://www.ncbi.nlm.nih.gov/pubmed/35722471
http://dx.doi.org/10.3389/fped.2022.908655