Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia

Primary bilateral macronodular adrenal hyperplasia (PBMAH) represents an uncommon cause of endogenous hypercortisolism. Since the first description in 2003 in a French cohort, many papers have been published describing families as well as isolated individuals affected with this condition, who were f...

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Detalles Bibliográficos
Autores principales: Vena, Walter, Morelli, Valentina, Carrabba, Maria, Elli, Francesca, Fabio, Giovanna, Muller, Ilaria, Lucca, Camilla, Maffini, Maria Antonia, Lania, Andrea Gerardo, Mantovani, Giovanna, Arosio, Maura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965228/
https://www.ncbi.nlm.nih.gov/pubmed/35368666
http://dx.doi.org/10.3389/fgene.2022.834067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965228/
https://www.ncbi.nlm.nih.gov/pubmed/35368666
http://dx.doi.org/10.3389/fgene.2022.834067

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