Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

INTRODUCTION: Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldostero...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Antona, Vincenzo, D’Alessandro, Maria Michela, Maggio, Maria Cristina, Verde, Vincenzo, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8207710/
https://www.ncbi.nlm.nih.gov/pubmed/34134742
http://dx.doi.org/10.1186/s13052-021-01080-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8207710/
https://www.ncbi.nlm.nih.gov/pubmed/34134742
http://dx.doi.org/10.1186/s13052-021-01080-x

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