Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability

Clin Genet. 2015 Sep;88(3):300-2. doi: 10.1111/cge.12544. Epub 2014 Dec 18.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Facies
  • Genetic Variation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Male
  • Phenotype*
  • Vesicular Transport Proteins / genetics*
  • Young Adult

Substances

  • PACS1 protein, human
  • Vesicular Transport Proteins