Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

J Med Genet. 2003 Jan;40(1):51-4. doi: 10.1136/jmg.40.1.51.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Pairing / genetics*
  • Carrier Proteins / genetics*
  • Developmental Disabilities / genetics*
  • Fathers
  • Genes, Dominant / genetics
  • Gigantism / genetics*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Intracellular Signaling Peptides and Proteins*
  • Male
  • Nuclear Family
  • Nuclear Proteins / genetics*
  • Sequence Deletion / genetics*
  • Syndrome

Substances

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