NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

Am J Med Genet A. 2013 Feb;161A(2):377-81. doi: 10.1002/ajmg.a.35650. Epub 2013 Jan 8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • COUP Transcription Factor I / genetics*
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Haploinsufficiency*
  • Humans
  • Molecular Diagnostic Techniques
  • Oligonucleotide Array Sequence Analysis
  • Optic Atrophy / diagnosis*
  • Optic Atrophy / genetics
  • Polymorphism, Single Nucleotide

Substances

  • COUP Transcription Factor I
  • NR2F1 protein, human