Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization

Clin Genet. 2017 Jul;92(1):117-118. doi: 10.1111/cge.12925. Epub 2017 Feb 1.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 22*
  • Female
  • Fertilization in Vitro
  • Group VI Phospholipases A2 / genetics*
  • Humans
  • Mutation*
  • Neuroaxonal Dystrophies / genetics*
  • Neuroaxonal Dystrophies / metabolism
  • Siblings
  • Uniparental Disomy*

Substances

  • Group VI Phospholipases A2
  • PLA2G6 protein, human