Gene symbol: NSD1. Disease: Sotos syndrome.
Ellison
Jay
J
Mayo Clinic, Medical Genetics, 200 First St SW, Rochester, MN 55906, USA. ellison.jay@mayo.edu
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D018388:Codon, Terminator; D002658:Developmental Disabilities / Q000235:genetics*; D005877:Gigantism / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome
D003062:Codon; D018389:Codon, Nonsense; D018388:Codon, Terminator; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human