PMID: 11317057Apr 24, 2001Paper

Case report: Teenage girl with proteinuria and amenorrhea

Current Opinion in Pediatrics
J HausladenD Bockenhauer

Abstract

Recent research has advanced the understanding of many diseases to a molecular level. Described here is the case of a teenage girl with proteinuria and primary amenorrhea. We present the current knowledge of her underlying disorder, Frasier syndrome, and its genetic basis, which are specific mutations in the Wilms tumor gene. The findings in Frasier syndrome research are contrasted with those of a related disorder, Denys-Drash syndrome, which is caused by different mutations in the same gene.

References

Nov 21, 1995·Proceedings of the National Academy of Sciences of the United States of America·P MoffettJ Pelletier
Jan 1, 1993·Mechanisms of Development·J F ArmstrongJ B Bard
Jul 1, 1993·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·M J CoppesB R Williams
Jul 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·A CaricasoleA Ward
Dec 17, 1997·Nature Genetics·S BarbauxK McElreavey
Sep 18, 1999·Archives of Disease in Childhood·A Koziell, R Grundy
Sep 15, 2000·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·N K Hollenberg
May 1, 1964·The Journal of Pediatrics·S D FRASIERH D MOSIER

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Citations

Jan 28, 2015·Cancer Prevention Research·Jiro EzakiNoriyuki Shibata

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