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

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

Abstract 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 a...

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Bibliographic Details
Main Authors: Gregorio Serra, Vincenzo Antona, Maria Michela D’Alessandro, Maria Cristina Maggio, Vincenzo Verde, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Italian Journal of Pediatrics
Subjects:
Pseudohypoaldosteronism
ENaC
SCNN1A gene
Splicing mutation
Next generation sequencing
Online Access:https://doi.org/10.1186/s13052-021-01080-x

Internet

https://doi.org/10.1186/s13052-021-01080-x

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