SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy

J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20. doi: 10.1097/01.mpg.0000151762.51287.7d.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / surgery
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Female
  • Germ-Line Mutation*
  • Humans
  • Male
  • Mosaicism*
  • Mutation, Missense
  • Osteoarthropathy, Secondary Hypertrophic / genetics*
  • Pedigree
  • Smad4 Protein
  • Trans-Activators / genetics*

Substances

  • DNA-Binding Proteins
  • SMAD4 protein, human
  • Smad4 Protein
  • Trans-Activators

Associated data

  • OMIM/174900