Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays

Clin Genet. 2005 Mar;67(3):267-9. doi: 10.1111/j.1399-0004.2004.00387.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Chromosomes, Human, Pair 7*
  • DNA Methylation
  • Face / abnormalities
  • GRB10 Adaptor Protein
  • Growth Disorders / genetics*
  • Head / abnormalities
  • Humans
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Syndrome
  • Uniparental Disomy / genetics*

Substances

  • GRB10 protein, human
  • Proteins
  • mesoderm specific transcript protein
  • GRB10 Adaptor Protein