Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

Am J Med Genet A. 2016 Jun;170(6):1647-50. doi: 10.1002/ajmg.a.37641. Epub 2016 Mar 31.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Phenotype*
  • Syndrome*

Substances

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