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2012 | 7 | 2 | 142-144
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Frasier syndrome diagnosed in a 4-year-old girl

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The authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T>C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.
Physical description
1 - 4 - 2012
3 - 2 - 2012
  • Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia
  • Department of Nephrology, Institute for Health Care of Mother and Child of Serbia, Radoja Dakića 8, Belgrade, Serbia
  • Department of Nephrology, University Children Hospital, Tiršova 10, Belgrade, Serbia
  • Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia
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