Clinical and Genetic Analysis of Multi-System Pseudohypoaldosteronism Type 1 Caused by a Novel Splice Site Mutation of the Beta Subunit Gene of Epithelial Sodium Channel (Enac)
1.1. Background: This article aims to provide a comprehensive review of the clinical features and genetics basis of multi-system pseudohypoaldosteronism type 1 caused by SCNN1B gene mutations.