A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1

Clin Dysmorphol. 2015 Apr;24(2):75-8. doi: 10.1097/MCD.0000000000000070.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Calcium-Binding Proteins
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Child, Preschool
  • Gene Deletion*
  • Homozygote
  • Humans
  • Intellectual Disability / diagnostic imaging
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Karyotype
  • Male
  • Nerve Tissue Proteins / genetics*
  • Neural Cell Adhesion Molecules
  • Radiography

Substances

  • Calcium-Binding Proteins
  • Cell Adhesion Molecules, Neuronal
  • NRXN1 protein, human
  • Nerve Tissue Proteins
  • Neural Cell Adhesion Molecules