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Article

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families.

Tumori - 1 Dec 2021

Azzollini Jacopo, Ferrari Andrea, Stracuzzi Alessandra, Chiaravalli Stefano, Terenziani Monica, Spreafico Filippo, Grasso Maurizia, Collini Paola, Pensotti Valeria, Massimino Maura, Arbustini Eloisa, Manoukian Siranoush

Abstract excerpt

INTRODUCTION: DICER1 syndrome is characterized by increased susceptibility to malignancies, mostly occurring in childhood. The range of phenotypic effects of DICER1 variants is under investigation, and the syndrome's phenotypic spectrum is steadily widening. We report on three Italian families showing heterogeneous clinical presentation and reduced penetrance in family members. CASE DESCRIPTIONS: Patient 1 is a...

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PMID: 34761719
DOI: 10.1177/03008916211058788

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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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