The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.

@article{Guaragna2010TheNW,
  title={The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.},
  author={M. Guaragna and F. C. Soardi and J. Assumpç{\~a}o and L. G. Zambaldi and I. Cardinalli and J. A. Yunes and M. de Mello and S. Brandalise and S. Aguiar},
  journal={Journal of pediatric hematology/oncology},
  year={2010},
  volume={32 6},
  pages={
          486-8
        }
}
SUMMARY Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset nephropathy, and Wilms' tumor (WT). DDS is mainly caused by mutations in the WT1 gene. This report describes a novel WT1 gene mutation in a DDS patient. Sequencing the WT1 gene revealed a heterozygous transversion CAT>AAT within exon 8, causing the… Expand
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