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Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy

✍ Scribed by Birgit Köhler; Valerié Schumacher; Dagmar l’Allemand; Brigitte Royer-Pokora; Annette Grüters


Book ID
117847689
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
215 KB
Volume
138
Category
Article
ISSN
1097-6833

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The same mutation affecting the splicing
✍ Angela S. Barbosa; Charalambos G. Hadjiathanasiou; Charalambos Theodoridis; Asté 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 464 KB 👁 2 views

Communicated by Michel Goossens ## Denys -Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms tumor. Heterozygous point mutations in the Wilms tumor, type1 gene (WT1), particularly those