ArticleEuropean journal of pediatrics2011
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.
Article in European journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 10 citations in OpenAlex.
- Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.Pediatric nephrology (Berlin, Germany) · 2022Article
- Mammalian sex determination—insights from humans and mice.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Review
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4 authors at 3 institutions in 1 country.
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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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