Global prevalence of genetic carriers for ARMC5- and KDM1A-associated primary bilateral macronodular adrenal hyperplasia: insights from a large multiethnic genomic database.

Abstract excerpt

PURPOSE: To estimate the global prevalence of genetic carriers of primary bilateral macronodular adrenal hyperplasia (PBMAH)-associated variants in ARMC5 and KDM1A using a large genomic database. METHODS: We analyzed sequencing data from 807,162 unrelated individuals in gnomAD v4.1. Two prespecified variant-selection strategies were applied. Strict criteria included ARMC5 and KDM1A variants classified as...

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