Deletion of NSD1 exon 14 in Sotos syndrome: first description

J Genet. 2011 Apr;90(1):119-23. doi: 10.1007/s12041-011-0017-6.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Exons / genetics
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Sequence Analysis, DNA
  • Sequence Deletion*
  • Sotos Syndrome / genetics*

Substances

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