Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

J Genet. 2011 Apr;90(1):147-50. doi: 10.1007/s12041-011-0032-7.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense / genetics*
  • Nuclear Proteins / genetics*
  • Protein Structure, Tertiary / genetics
  • Sotos Syndrome / genetics*
  • Sotos Syndrome / pathology

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human