Mutation of PACS1: the milder end of the spectrum

Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Family
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mutation
  • Phenotype
  • Syndrome
  • Vesicular Transport Proteins / genetics*
  • Vesicular Transport Proteins / physiology*

Substances

  • PACS1 protein, human
  • Vesicular Transport Proteins