Bilateral Wilms' tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region.

Mara Sanches GuaragnaFelipe Lourenço LedesmaVictoria Zavanelli ManzanoAndréa Trevas Maciel-GuerraGil Guerra-JúniorMarcelo Milone SilvaPedro Luiz de BritoMaricilda Palandi de Mello

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)

This molecular finding is compatible with the severe scenario regarding the Wilm's tumor presented by the patient even though nephropathy was absent.

Keyphrases

case report
early onset
single molecule