Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome: further evidence for the role of SRGAP3 in mental retardation

Clin Dysmorphol. 2014 Jan;23(1):29-31. doi: 10.1097/MCD.0000000000000017.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 3 / genetics
  • GTPase-Activating Proteins / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Karyotype
  • Learning Disabilities / genetics*
  • Learning Disabilities / pathology
  • Male
  • Young Adult

Substances

  • GTPase-Activating Proteins
  • SRGAP3 protein, human

Supplementary concepts

  • Chromosome 3, monosomy 3p