Review paper
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes
Abstract
DICER1 syndrome is a pleiotropic tumor predisposition syndrome characterized by a distinctive constellation of neoplastic and dysplastic lesions, which are generally rare and affect children and young adults. Germline pathogenic variants in the DICER1 gene are the underlying cause of the syndrome; variants are typically inherited in an autosomal dominant pattern but may arise de novo in the germline or in a somatic mosaic distribution. The...
Paper Details
Title
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes
Published Date
Aug 17, 2019
Journal
Volume
40
Issue
11
Pages
1939 - 1953
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Notes
History