Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

Am J Med Genet A. 2011 Dec;155A(12):3170-3. doi: 10.1002/ajmg.a.34334. Epub 2011 Nov 7.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics*
  • Child
  • Child, Preschool
  • Exons
  • Facies
  • Female
  • Gene Deletion*
  • Heterozygote
  • Humans
  • Infant
  • Ligase Chain Reaction
  • Phenotype
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • UBE3A protein, human
  • Ubiquitin-Protein Ligases