RT Journal Article
T1 Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
A1 Martínez de LaPiscina, Idoia
A1 Hernández-Ramírez, Laura C
A1 Portillo, Nancy
A1 Gómez-Gila, Ana L
A1 Urrutia, Inés
A1 Martínez-Salazar, Rosa
A1 García-Castaño, Alejandro
A1 Aguayo, Aníbal
A1 Rica, Itxaso
A1 Gaztambide, Sonia
A1 Faucz, Fabio R
A1 Keil, Margaret F
A1 Lodish, Maya B
A1 Quezado, Martha
A1 Pankratz, Nathan
A1 Chittiboina, Prashant
A1 Lane, John
A1 Kay, Denise M
A1 Mills, James L
A1 Castaño, Luis
A1 Stratakis, Constantine A
K1 Cushing's disease
K1 DICER1
K1 corticotropinoma
K1 disease-modifying gene
K1 pituitary neuroendocrine tumor
AB 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: To perform a comprehensive screening for DICER1 variants in a large cohort of CD patients, and to analyze their possible contribution to the phenotype. Design, setting, patients, and interventions: We included 192 CD cases: ten young-onset (age
SN 1664-2392
YR 2020
FD 2020-07-03
LK https://hdl.handle.net/10668/27352
UL https://hdl.handle.net/10668/27352
LA en
DS RISalud
RD Apr 11, 2025