A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus

Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cyclin D2 / genetics*
  • Female
  • Fingers / abnormalities*
  • Fingers / physiopathology
  • Humans
  • Hydrocephalus / genetics*
  • Hydrocephalus / physiopathology
  • Megalencephaly / genetics*
  • Megalencephaly / physiopathology
  • Mutation*
  • Polydactyly / genetics*
  • Polydactyly / physiopathology
  • Polymicrogyria / genetics*
  • Polymicrogyria / physiopathology
  • Toes / abnormalities*
  • Toes / physiopathology

Substances

  • CCND2 protein, human
  • Cyclin D2

Supplementary concepts

  • Polydactyly, Postaxial