Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

J Med Genet. 2008 Jul;45(7):479-80. doi: 10.1136/jmg.2008.058503.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Repair Enzymes
  • Female
  • Gene Dosage
  • Humans
  • Hydrolases
  • Intellectual Disability / genetics*
  • Japan
  • Male
  • Membrane Glycoproteins
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • FLRT3 protein, human
  • MACROD2 protein, human
  • Membrane Glycoproteins
  • Membrane Proteins
  • Transcription Factors
  • DNA
  • Hydrolases
  • DNA Repair Enzymes