New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).

Mara GiacchéAlessandra PanarottoLuigi MoriPietro Luigi PolianiRoberto LanziMarco Schiavo LenaMaurizio Castellano

Published in: Molecular genetics & genomic medicine (2023)

Our results underscore the importance of performing genetic testing also in sporadic PBMAH patients and broaden the spectrum of molecular variants involved in PBMAH syndrome.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
copy number
prognostic factors
transcription factor