Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Am J Med Genet A. 2006 Oct 15;140(20):2251-3. doi: 10.1002/ajmg.a.31454.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bladder Exstrophy / genetics*
  • Bladder Exstrophy / pathology*
  • Female
  • Haplotypes / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Motor Proteins / genetics*
  • Mutation, Missense / genetics
  • Myosin Heavy Chains / genetics*
  • Sequence Analysis, DNA
  • Thrombocytopenia / congenital
  • Thrombocytopenia / genetics*

Substances

  • MYH9 protein, human
  • Molecular Motor Proteins
  • Myosin Heavy Chains