Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

J Med Genet. 2003 Apr;40(4):285-9. doi: 10.1136/jmg.40.4.285.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Deletion
  • Growth Disorders / pathology*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Intellectual Disability / pathology*
  • Intracellular Signaling Peptides and Proteins*
  • Male
  • Mutation
  • Nuclear Proteins / genetics*
  • Syndrome

Substances

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

Associated data

  • OMIM/117550