Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation

Acta Neurol Belg. 2016 Jun;116(2):223-4. doi: 10.1007/s13760-015-0526-9. Epub 2015 Aug 18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Agenesis of Corpus Callosum / genetics*
  • Developmental Disabilities / genetics*
  • Female
  • Humans
  • Infant
  • Mutation*
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Polymerase Chain Reaction
  • SOS1 Protein / genetics*

Substances

  • SOS1 Protein