A new case of Pitt-Hopkins-like syndrome 2?

Neurologia (Engl Ed). 2019 Nov-Dec;34(9):607-609. doi: 10.1016/j.nrl.2017.01.018. Epub 2017 Mar 23.
[Article in English, Spanish]
No abstract available

Publication types

  • Letter

MeSH terms

  • Autistic Disorder
  • Calcium-Binding Proteins / genetics*
  • Child, Preschool
  • Colombia
  • Facies
  • Humans
  • Hyperventilation / genetics*
  • Intellectual Disability / genetics*
  • Male
  • Mutation / genetics
  • Neural Cell Adhesion Molecules / genetics*
  • Parents

Substances

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

Supplementary concepts

  • Pitt-Hopkins syndrome