A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the <i>NR3C2</i> Gene at 4q31.23

Dehydration with hyponatremia can occur from a variety of causes and can be potentially fatal to infants. Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that can cause severe dehydration along with hyponatremia and hyperkalemia because of renal tubular unresponsiveness to mineralocorticoids...

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Bibliographic Details
Main Authors: Su Jin Kim, Dasom Park, Woori Jang, Juyoung Lee
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Children
Subjects:
Online Access:https://www.mdpi.com/2227-9067/8/12/1090