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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access February 3, 2012

Frasier syndrome diagnosed in a 4-year-old girl

Biljana Miloševic, Radovan Bogdanović, Mirjana Kostić and Vesna Stojanović
From the journal Open Medicine

Abstract

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.

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Published Online: 2012-2-3
Published in Print: 2012-4-1

© 2011 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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