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Article

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Clinical endocrinology - 1 May 2005

Edelheit Oded, Hanukoglu Israel, Gizewska Maria, Kandemir Nurgun, Tenenbaum-Rakover Yardena, Yurdakök Murat, Zajaczek Stanislaw, Hanukoglu Aaron

Abstract excerpt

OBJECTIVES: Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma. In this study we examined three PHA patients to identify mutations responsible for PHA with different clinical presentations. PATIENTS: All three patients presented uniformly with...

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Source

Identifiers

PMID: 15853823
DOI: 10.1111/j.1365-2265.2005.02255.x

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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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