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Article

Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes

16 Sept 2024

Abstract excerpt

Introduction WT1 disorder is a recently introduced term for phenotypes associated with germline Wilms Tumor 1 ( WT1 ) variants, including glomerulopathy, urogenital anomalies, and Wilms tumor. Previous studies showed a bias toward missense variants in the DNA-binding/Zinc-finger domain of WT1 (exon 8 and 9) and patients with early-onset glomerulopathy. Thorough genotype-phenotype correlations including follow-up...

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PMID: 39698353
DOI: 10.1016/j.ekir.2024.09.007

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