A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype

J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Brain / diagnostic imaging
  • Fibrosis / diagnostic imaging
  • Fibrosis / genetics*
  • Humans
  • Kinesins / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Ophthalmoplegia / diagnostic imaging
  • Ophthalmoplegia / genetics*
  • Phenotype*

Substances

  • KIF21A protein, human
  • Kinesins

Supplementary concepts

  • Congenital Fibrosis of the Extraocular Muscles