RNF135 mutations are not present in patients with Sotos syndrome-like features

Am J Med Genet A. 2009 Feb 15;149A(4):806-8. doi: 10.1002/ajmg.a.32694.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Female
  • Genes, Neurofibromatosis 1
  • Growth Disorders / genetics*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics
  • Learning Disabilities / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Nuclear Proteins / genetics
  • Phenotype
  • Syndrome
  • Ubiquitin-Protein Ligases
  • Young Adult

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human
  • RNF135 protein, human
  • Ubiquitin-Protein Ligases