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Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel USP8 Gene Variant

SIMPLE SUMMARY: Cushing’s Disease (CD) is a rare but severe endocrine disorder due to an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor, and pathogenetics remained a puzzling issue for a long time. The recent identification of somatic mutations in the 14-3-3 protein binding motif of ub...

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Detalles Bibliográficos
Autores principales: Treppiedi, Donatella, Barbieri, Anna Maria, Di Muro, Genesio, Marra, Giusy, Mangili, Federica, Catalano, Rosa, Esposito, Emanuela, Ferrante, Emanuele, Serban, Andreea Liliana, Locatelli, Marco, Lania, Andrea Gerardo, Spada, Anna, Arosio, Maura, Peverelli, Erika, Mantovani, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392476/
https://www.ncbi.nlm.nih.gov/pubmed/34439178
http://dx.doi.org/10.3390/cancers13164022