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Open Medicine

formerly Central European Journal of Medicine

Editor-in-Chief: Darzynkiewicz, Zbigniew


IMPACT FACTOR 2018: 1.221

CiteScore 2018: 1.01

SCImago Journal Rank (SJR) 2018: 0.329
Source Normalized Impact per Paper (SNIP) 2018: 0.479

ICV 2017: 152.94

Open Access
Online
ISSN
2391-5463
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Volume 7, Issue 2

Issues

Volume 10 (2015)

Frasier syndrome diagnosed in a 4-year-old girl

Biljana Miloševic
  • Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia
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/ Radovan Bogdanović
  • Department of Nephrology, Institute for Health Care of Mother and Child of Serbia, Radoja Dakića 8, Belgrade, Serbia
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/ Mirjana Kostić / Vesna Stojanović
  • Department of Nephrology, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljka 10., Novi Sad, Serbia
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Published Online: 2012-02-03 | DOI: https://doi.org/10.2478/s11536-011-0135-9

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.

Keywords: Frasier syndrome; Rare mutation; Post-transplantation lymph-proliferative disease

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About the article

Published Online: 2012-02-03

Published in Print: 2012-04-01


Citation Information: Open Medicine, Volume 7, Issue 2, Pages 142–144, ISSN (Online) 2391-5463, DOI: https://doi.org/10.2478/s11536-011-0135-9.

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© 2011 Versita Warsaw. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License. BY-NC-ND 3.0

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