A Novel <i>ARMC5</i> Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

A Novel <i>ARMC5</i> Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing

Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing’s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the <i>ARMC5</i> gene, a potential tumor suppressor gene, is one of the associated c...

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Bibliographic Details
Main Authors: Maryam Eghbali, Sara Cheraghi, Sara Samanian, Iman Rad, Jafar Meghdadi, Hamideh Akbari, Maryam Honardoost
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Diagnostics
Subjects:
PMAH
whole-exome sequencing
<i>ARMC5</i>
novel germline variant
Online Access:https://www.mdpi.com/2075-4418/12/12/3028

Internet

https://www.mdpi.com/2075-4418/12/12/3028

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