Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations

Nephrol Dial Transplant. 2008 Feb;23(2):777-9. doi: 10.1093/ndt/gfm685. Epub 2007 Dec 8.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Female
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Nuclear Proteins / genetics*
  • Protein Tyrosine Phosphatases / genetics*
  • Urinary Tract / abnormalities*

Substances

  • HNF1B protein, human
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Hepatocyte Nuclear Factor 1-beta
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases