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Article

Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Familial cancer - 1 Oct 2023

Venger Kateryna, Elbracht Miriam, Carlens Julia, Deutz Peter, Zeppernick Felix, Lassay Lisa, Kratz Christian, Zenker Martin, Kim Jung, Stewart Douglas R, Wieland Ilse, Schultz Kris Ann P, Schwerk Nicolaus, Kurth Ingo, Kontny Udo

Abstract excerpt

Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms' tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in...

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Identifiers

PMID: 34331184
DOI: 10.1007/s10689-021-00271-z
PMCID: PMC9743360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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