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OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia

INTRODUCTION: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by bilateral adrenal macronodules responsible for adrenal Cushing. To date, two genetic causes of PBMAH are known: germline inactivating variants of the tumor suppressor genes ARMC5 iden...

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Detalles Bibliográficos
Autores principales: Armignacco, Roberta, Assié, Guillaume, Barat, Maxime, Bertherat, Jérôme, Berthon, Annabel, Bonnet-Serrano, Fidéline, Cavalcante, Isadora P, Dousset, Bertrand, Giannone, Gaëtan, Groussin, Lionel, Guignat, Laurence, Jouinot, Anne, Libé, Rossella, North, Marie-Odile, Pasmant, Eric, Perlemoine, Karine, Ragazzon, Bruno, Ribes, Christopher, Sibony, Mathilde, Vaczlavik, Anna, Vaduva, Patricia, Violon, Florian, Bouys, Lucas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625601/
http://dx.doi.org/10.1210/jendso/bvac150.167