Expansion of the Clinical Phenotype Associated With Mutations in Activity-Dependent Neuroprotective Protein

J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444. Epub 2014 Jul 23.

Abstract

No abstract available

Keywords: Clinical genetics; Genetics; Molecular genetics; Neurosciences; Visual development.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / pathology
  • Female
  • Genetic Association Studies
  • Homeodomain Proteins / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Phenotype*
  • Sequence Analysis, DNA

Substances

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