Cargando…
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:...
Autores principales: | Martínez de LaPiscina, Idoia, Hernández-Ramírez, Laura C., Portillo, Nancy, Gómez-Gila, Ana L., Urrutia, Inés, Martínez-Salazar, Rosa, García-Castaño, Alejandro, Aguayo, Aníbal, Rica, Itxaso, Gaztambide, Sonia, Faucz, Fabio R., Keil, Margaret F., Lodish, Maya B., Quezado, Martha, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Mills, James L., Castaño, Luis, Stratakis, Constantine A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351020/ https://www.ncbi.nlm.nih.gov/pubmed/32714280 http://dx.doi.org/10.3389/fendo.2020.00433 |
Ejemplares similares
-
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
por: Urrutia, Inés, et al.
Publicado: (2019) -
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
por: García-Castaño, Alejandro, et al.
Publicado: (2018) -
Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY
por: Urrutia, Inés, et al.
Publicado: (2017) -
OR24-6 Non-syndromic Cushing's Disease Due To CDKN1B Mutations: Novel Mutations And Phenotypic Features In A Large Pediatric Cohort
por: Hernández-Ramírez, Laura, et al.
Publicado: (2019) -
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease
por: Faucz, Fabio R., et al.
Publicado: (2017)