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Article

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Journal of medical genetics - 1 Sept 2023

Stoltze Ulrik Kristoffer, Hildonen Mathis, Hansen Thomas Van Overeem, Foss-Skiftesvik Jon, Byrjalsen Anna, Lundsgaard Malene, Pignata Laura, Grønskov Karen, Tumer Zeynep, Schmiegelow Kjeld, Brok Jesper Sune, Wadt Karin A W

Abstract excerpt

BACKGROUND: Studies suggest that Wilms tumours (WT) are caused by underlying genetic (5%-10%) and epigenetic (2%-29%) mechanisms, yet studies covering both aspects are sparse. METHODS: We performed prospective whole-genome sequencing of germline DNA in Danish children diagnosed with WT from 2016 to 2021, and linked genotypes to deep phenotypes. RESULTS: Of 24 patients (58% female), 3 (13%, all female) harboured...

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Identifiers

PMID: 37019617
DOI: 10.1136/jmg-2022-108982
PMCID: PMC10447365

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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