Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)

Am J Med Genet A. 2006 Oct 15;140(20):2245-7. doi: 10.1002/ajmg.a.31430.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Acrocephalosyndactylia / pathology
  • Carcinoma, Papillary / genetics*
  • Carcinoma, Papillary / pathology
  • Child, Preschool
  • Female
  • Humans
  • Mutation, Missense / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / pathology

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2