Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score

Clin Dysmorphol. 2017 Jan;26(1):47-49. doi: 10.1097/MCD.0000000000000139.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion
  • Chromosomes, Human, X
  • Comparative Genomic Hybridization
  • Cytoskeletal Proteins / genetics*
  • GTPase-Activating Proteins / genetics*
  • Genetic Association Studies*
  • Humans
  • Intelligence*
  • Male
  • Nuclear Proteins / genetics*
  • Phenotype
  • Sequence Deletion*

Substances

  • Cytoskeletal Proteins
  • GTPase-Activating Proteins
  • Nuclear Proteins
  • OPHN1 protein, human