Constitutional epigenetic defects affecting the 11p15.5 imprinted region cause a number of syndromic conditions involving birth defects. Now, an analysis of a large cohort of individuals with nonsyndromic Wilms tumor demonstrates the presence of known and newly identified constitutional IGF2-H19 imprinting defects, extending the phenotype associated with soma-wide 11p15.5 imprinting disorders.
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Riccio, A. Wilms tumor and constitutional epigenetic defects. Nat Genet 40, 1272–1273 (2008). https://doi.org/10.1038/ng1108-1272
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DOI: https://doi.org/10.1038/ng1108-1272
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