Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

INTRODUCTION: Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures. PAM encodes...

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Detalles Bibliográficos
Autores principales: Trivellin, Giampaolo, Daly, Adrian F., Hernández-Ramírez, Laura C., Araldi, Elisa, Tatsi, Christina, Dale, Ryan K., Fridell, Gus, Mittal, Arjun, Faucz, Fabio R., Iben, James R., Li, Tianwei, Vitali, Eleonora, Stojilkovic, Stanko S., Kamenicky, Peter, Villa, Chiara, Baussart, Bertrand, Chittiboina, Prashant, Toro, Camilo, Gahl, William A., Eugster, Erica A., Naves, Luciana A., Jaffrain-Rea, Marie-Lise, de Herder, Wouter W., Neggers, Sebastian JCMM, Petrossians, Patrick, Beckers, Albert, Lania, Andrea G., Mains, Richard E., Eipper, Betty A., Stratakis, Constantine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10303134/
https://www.ncbi.nlm.nih.gov/pubmed/37388215
http://dx.doi.org/10.3389/fendo.2023.1166076

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