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={Mara Sanches Guaragna and Fernanda Caroline Soardi and Juliana Godoy Assumpç{\~a}o and Lilian Girotto Zambaldi and Izilda Aparecida Cardinalli and Jos{\'e} Andr{\'e}s Yunes and Maricilda Palandi de Mello and S{\'i}lvia Regina Brandalise and Simone dos Santos 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… 

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TLDR
Analysis of exons 2–10 of the WT1 gene in constitutional DNA from five patients with DDS showed heterozygous germline mutations were found, and polymorphic markers from the short arm of chromosome 11 were used to determine the parental origin of the mutant chromosome.

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TLDR
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TLDR
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TLDR
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