Article
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
American journal of human genetics - 1 Apr 1998
Jeanpierre C, Denamur E, Henry I, Cabanis M O, Luce S, Cécille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler M C, Junien C
Abstract excerpt
Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mut...
Topics
- Amino Acid Sequence
- Child, Preschool
- DNA-Binding Proteins
- Databases, Factual
- Disorders of Sex Development
- Female
- Genes, Wilms Tumor
- Humans
- Infant
- Infant, Newborn
- Kidney Neoplasms
- Male
- Molecular Sequence Data