Frasier syndrome comes full circle: genetic studies performed in an original patient

J Pediatr. 2005 Jun;146(6):843-4. doi: 10.1016/j.jpeds.2005.02.029.

Abstract

Frasier syndrome is a relatively rare disorder associated with XY gonadal dysgenesis, gonadoblastoma, and kidney failure. In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964.

Publication types

  • Case Reports
  • Comment
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenine
  • DNA Mutational Analysis
  • Denys-Drash Syndrome / genetics*
  • Female
  • Genes, Wilms Tumor*
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Guanine
  • Humans
  • Introns
  • Middle Aged
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • Guanine
  • Adenine