The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment
J Pediatr Endocrinol Metab. 2025 Nov 24. doi: 10.1515/jpem-2025-0372. Online ahead of print. ABSTRACT OBJECTIVES: Systemic pseudohypoaldosteronism type 1(PHA1) is a rare, autosomal recessive disorder …