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Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report

Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in NR3C2 (MLR) gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is...

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Detalles Bibliográficos
Autores principales:	Joshi, Kamal, Verma, Prashant Kumar, Barman, Manidipa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Communications and Publications Division (CPD) of the IFCC 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644093/ https://www.ncbi.nlm.nih.gov/pubmed/36447799

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