A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients with PHA1 present in infancy as being in adrenal cri...

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Detalles Bibliográficos
Autores principales: Huneif, Mohammed Ayed, Alhazmy, Ziyad Hamad, Shoomi, Anas M., Alghofely, Mohammed A., Heena, Humariya, Mushiba, Aziza M., Alsaheel, Abdulhamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176094/
https://www.ncbi.nlm.nih.gov/pubmed/33829730
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0175

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176094/
https://www.ncbi.nlm.nih.gov/pubmed/33829730
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0175

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