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01-08-2011 | Short Report

A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis

Authors: Dong-Gi Lee, Deok Hyun Han, Kwan Hyun Park, Minki Baek

Published in: European Journal of Pediatrics | Issue 8/2011

Abstract

Denys–Drash syndrome (DDS) is a rare genetic disorder featuring the triad of Wilms' tumor, early-onset renal failure, and 46, XY disorder of sex development. DDS is usually caused by heterozygous missense mutations in the zinc-finger region of the WT1 gene. The most frequent constitutional WT1 mutations in DDS patients are missense mutations in exons 8 and 9. We present a new case of variable DDS in a child who was found to have a novel heterozygous missense mutation in exon 7 (c.905G>T) and a splicing mutation in exon 6 (IVS6-1G>T).

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Title: A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis
Authors: Dong-Gi Lee
Deok Hyun Han
Kwan Hyun Park
Minki Baek
Publication date: 01-08-2011
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 8/2011
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-011-1439-0

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A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis

Abstract

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Abstract

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