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Milosevic B.,Institute for Child and Youth Health Care of Vojvodina | Bogdanovic R.,Institute for Health Care of Mother and Child of Serbia | Kostic M.,University of Belgrade | Stojanovic V.,Institute for Child and Youth Health Care of Vojvodina
Central European Journal of Medicine | Year: 2012

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 confrmed 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. © Versita Sp. z o.o.

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