Dual diagnosis causing severe phenotype in a patient with Angelman syndrome

Clin Dysmorphol. 2019 Jul;28(3):160-163. doi: 10.1097/MCD.0000000000000280.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics*
  • Child
  • Diagnosis, Dual (Psychiatry)
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Phenotype
  • ras GTPase-Activating Proteins / genetics*
  • ras GTPase-Activating Proteins / metabolism

Substances

  • SYNGAP1 protein, human
  • ras GTPase-Activating Proteins