Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotropinomas, however, remains unknown.Objective: T...

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Main Authors: Idoia Martínez de LaPiscina, Laura C. Hernández-Ramírez, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martínez-Salazar, Alejandro García-Castaño, Aníbal Aguayo, Itxaso Rica, Sonia Gaztambide, Fabio R. Faucz, Margaret F. Keil, Maya B. Lodish, Martha Quezado, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M. Kay, James L. Mills, Luis Castaño, Constantine A. Stratakis
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Endocrinology
Subjects:
pituitary neuroendocrine tumor
Cushing's disease
DICER1
disease-modifying gene
corticotropinoma
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2020.00433/full

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https://www.frontiersin.org/article/10.3389/fendo.2020.00433/full

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