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Article

Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Aug 2024

Saffari Fatemeh, Bahadoran Ensiyeh, Homaei Ali, Moghbelinejad Sahar

Abstract excerpt

OBJECTIVES: Pseudohypoaldosteronism type 1 (PHA1) has two genetically distinct variants, including renal and systemic forms. Systemic PHA type I (PHA1B) has varying degrees of clinical presentation and results from mutations in genes encoding subunits of the epithelial sodium channel (ENaC) including the alpha, beta, and gamma subunits. To date, about 45 variants of PHA1B have been identified. CASE PRESENTATION:...

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Identifiers

PMID: 38963175
DOI: 10.1515/jpem-2023-0505

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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