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Article

Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations

1 Jan 2025

Abstract excerpt

OBJECTIVE: Genetic abnormalities in ion channels that regulate the depolarization of adrenal glomerular cell plasma membranes have been identified as a cause of primary aldosteronism (PA) due to aldosterone-producing adenoma (APA). This study aimed to evaluate somatic variants in the KCNJ5, CACNA1D, CLCN2, ATP1A1, ATP2B3, GNAQ, GNA11, and CTNNB1 genes, assess the genotype-phenotype correlation, and analyze the...

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PMID: 41196931
DOI: 10.20945/2359-4292-2025-0228

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