Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation

J Mol Neurosci. 2019 Jul;68(3):321-330. doi: 10.1007/s12031-019-01333-9.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / therapy
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Phenotype*
  • Problem Behavior

Substances

  • ADNP protein, human
  • Homeodomain Proteins
  • Nerve Tissue Proteins