Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy

Clin Dysmorphol. 2017 Jan;26(1):38-40. doi: 10.1097/MCD.0000000000000154.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, X*
  • Comparative Genomic Hybridization
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Facies
  • Genetic Association Studies*
  • Humans
  • Male
  • Phenotype
  • p21-Activated Kinases / genetics*

Substances

  • PAK3 protein, human
  • p21-Activated Kinases