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A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene enc...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077507/ https://www.ncbi.nlm.nih.gov/pubmed/21503203 http://dx.doi.org/10.3345/kjp.2011.54.2.90 |