Identification of eight novel NSD1 mutations in Sotos syndrome

J Med Genet. 2003 Nov;40(11):e126. doi: 10.1136/jmg.40.11.e126.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Alternative Splicing / genetics
  • Bone Diseases, Developmental / genetics*
  • Carrier Proteins / genetics*
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Female
  • Growth Disorders / genetics*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Intellectual Disability / genetics*
  • Intracellular Signaling Peptides and Proteins*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nuclear Family
  • Nuclear Proteins / genetics*
  • Predictive Value of Tests

Substances

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

Associated data

  • GENBANK/AF395588