Article
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN).
Journal of medical genetics - 1 Sept 2021
Hyder Zerin, Fairclough Adele, Groom Mike, Getty Joan, Alexander Elizabeth, van Veen Elke M, Makin Guy, Sethuraman Chitra, Tang Vivian, Evans D Gareth, Maher Eamonn R, Woodward Emma R
Abstract excerpt
BACKGROUND: Nephroblastomatosis is a recognised precursor for the development of Wilms tumour (WT), the most common childhood renal tumour. While the majority of WT is sporadic in origin, germline intragenic mutations of predisposition genes such as WT1, REST and TRIM28 have been described in apparently isolated (non-familial) WT.Despite constitutional CNVs being a well-studied cause of developmental disorders,...
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