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

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

Abstract Background To perform genetic screening for ARMC5 gene germline pathogenic variants in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH). Subjects and Methods In a group of 10 PBMAH patients, we performed complete sequencing of the coding region of the ARMC5 gene and...

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Bibliographic Details
Main Authors: Mara Giacché, Alessandra Panarotto, Luigi Mori, Pietro Luigi Poliani, Roberto Lanzi, Marco Schiavo Lena, Maurizio Castellano
Format: Article
Language:English
Published: Wiley 2023-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ARMC5‐gene
Cushing syndrome
meningioma
PBMAH
Online Access:https://doi.org/10.1002/mgg3.2126

Internet

https://doi.org/10.1002/mgg3.2126

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