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:...

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Vydáno v:Front Endocrinol (Lausanne)
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Endocrinology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7351020/
https://ncbi.nlm.nih.gov/pubmed/32714280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2020.00433
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