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

3 Jul 2020

Abstract excerpt

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...

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PMID: 32714280
DOI: 10.3389/fendo.2020.00433

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