Cargando…
Primary Macronodular Adrenal Hyperplasia Associated With Autosomal Dominant ARMC5 Mutation
Background: Primary macronodular adrenal hyperplasia (PMAH) is an uncommon cause of Cushing’s syndrome. In some cases, this is an inherited disorder due to a mutation in the armadillo repeat-containing 5 (ARMC5) gene. Clinical Case: A 43-year-old African American woman presented to clinic with weigh...
Autores principales: | Kerut, Sarah Elizabeth, Subauste, Angela |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089335/ http://dx.doi.org/10.1210/jendso/bvab048.311 |
Ejemplares similares
-
SUN-382 Heterogeneous Clinical Presentation In Familial Cases Of Primary Macronodular Adrenal Hyperplasia (PMAH): The Influence Of Somatic Event Of ARMC5.
por: Brondani, Vânia, et al.
Publicado: (2019) -
SAT-193 Clinical Case of ARMC5 Tumor Syndrome: A Rare Case of Cushing’s Syndrome from Primary Bilateral Macronodular Adrenal Hyperplasia Caused by ARMC5 Mutation with Concomitant Presence of Meningiomas and Primary Hyperparathyroidism
por: Parikh, Sahil, et al.
Publicado: (2020) -
OR12-3 Identification of Predictive Criteria for the Primary Bilateral Macronodular Adrenal Hyperplasia Gene ARMC5: A European Series of 352 Unselected Patients.
por: Assié, Guillaume, et al.
Publicado: (2022) -
OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia
por: Armignacco, Roberta, et al.
Publicado: (2022) -
ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
por: Yu, Liping, et al.
Publicado: (2018)