A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Clin Genet. 2020 Jun;97(6):940-942. doi: 10.1111/cge.13753. Epub 2020 Apr 29.

Abstract

Publication types

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

MeSH terms

  • Child
  • Chromosome Duplication / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Transcription Factors, TFII / genetics*
  • Williams Syndrome / genetics*
  • Williams Syndrome / pathology

Substances

  • GTF2I protein, human
  • Transcription Factors, TFII

Supplementary concepts

  • Williams-Beuren Region Duplication Syndrome