Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation

J Hum Genet. 2018 Jun;63(6):779-781. doi: 10.1038/s10038-018-0434-y. Epub 2018 Mar 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Casein Kinase II / genetics
  • DNA Mutational Analysis
  • Humans
  • Infant
  • Male
  • Mutation*
  • Prognosis
  • RNA Splice Sites / genetics*
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / pathology

Substances

  • RNA Splice Sites
  • CSNK2A1 protein, human
  • Casein Kinase II