A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

Clin Genet. 2019 Feb;95(2):339-340. doi: 10.1111/cge.13466. Epub 2018 Nov 20.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Alleles
  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics*
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Genotype
  • Homozygote*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Twins, Monozygotic*

Substances

  • Cell Adhesion Molecules, Neuronal
  • Codon, Nonsense
  • neuroligin 1