| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Frontiers in Endocrinology, Vol 11 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1664-2392 |
| DOI: |
10.3389/fendo.2020.00433 |
| Popis: |
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 |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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