The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report

Korean J Ophthalmol. 2023 Apr;37(2):195-197. doi: 10.3341/kjo.2022.0144. Epub 2023 Mar 23.
No abstract available

Publication types

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

MeSH terms

  • Cation Transport Proteins* / genetics
  • Cations
  • Child
  • Cone-Rod Dystrophies* / genetics
  • Humans
  • Mutation
  • Mutation, Missense
  • Republic of Korea

Substances

  • Cations
  • CNNM4 protein, human
  • Cation Transport Proteins

Supplementary concepts

  • Jalili syndrome