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. © 2008 Nature Publishing Group.
Wilms tumor and constitutional epigenetic defects
RICCIO, Andrea
2008
Abstract
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. © 2008 Nature Publishing Group.File in questo prodotto:
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