Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

J Hum Genet. 2012 Feb;57(2):153-6. doi: 10.1038/jhg.2011.145. Epub 2012 Jan 5.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Child
  • Chromosomes, Human, Pair 11 / genetics*
  • DNA Methylation*
  • Diagnosis, Differential
  • Gene Dosage
  • Genomic Imprinting*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Male
  • Potassium Channels, Voltage-Gated / genetics
  • Sotos Syndrome / diagnosis
  • Sotos Syndrome / genetics

Substances

  • KCNQ1OT1 long non-coding RNA, human
  • Potassium Channels, Voltage-Gated