Article
A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.
Endocrine - 1 Mar 2017
Albiger N M, Regazzo D, Rubin B, Ferrara A M, Rizzati S, Taschin E, Ceccato F, Arnaldi G, Pecori Giraldi F, Stigliano A, Cerquetti L, Grimaldi F, De Menis E, Boscaro M, Iacobone M, Occhi G, Scaroni C
Abstract excerpt
ARMC5 mutations have recently been identified as a common genetic cause of primary bilateral macronodular adrenal hyperplasia (PBMAH). We aimed to assess the prevalence of ARMC5 germline mutations and correlate genotype with phenotype in a large cohort of PBMAH patients. A multicenter study was p...
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