A Novel ARMC5 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 ARMC5 gene, a potential tumor suppressor gene, is one of the associated causes of PMAH. This...

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Detalles Bibliográficos
Autores principales: Eghbali, Maryam, Cheraghi, Sara, Samanian, Sara, Rad, Iman, Meghdadi, Jafar, Akbari, Hamideh, Honardoost, Maryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777150/
https://www.ncbi.nlm.nih.gov/pubmed/36553033
http://dx.doi.org/10.3390/diagnostics12123028

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