Article
A familial WT1 mutation associated with incomplete Denys-Drash syndrome.
European journal of pediatrics - 1 Oct 2013
Zhu Chunhua, Zhao Fei, Zhang Weizhen, Wu Hongmei, Chen Ying, Ding Guixia, Zhang Aihua, Huang Songming
Abstract excerpt
UNLABELLED: Denys-Drash syndrome (DDS) is a rare disorder characterized by nephropathy, male pseudohermaphroditism, and wilms tumor. Cases are thought to arise sporadically through a de novo mutation in the wilms tumor suppressor gene (WT1), which encodes a zinc finger protein that not only acts as a tumor suppressor but is essential for normal gonadogenesis, nephrogenesis, and development of the urogenital...
Topics
- Child, Preschool
- Denys-Drash Syndrome
- Disorders of Sex Development
- Exons
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation, Missense
- WT1 Proteins