Clinical utility gene card for FRMD7-related infantile nystagmus

Eur J Hum Genet. 2021 Oct;29(10):1584-1588. doi: 10.1038/s41431-021-00826-9. Epub 2021 Feb 25.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytoskeletal Proteins / genetics*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Membrane Proteins / genetics*
  • Mutation
  • Nystagmus, Congenital / diagnosis
  • Nystagmus, Congenital / genetics*
  • Sensitivity and Specificity

Substances

  • Cytoskeletal Proteins
  • FRMD7 protein, human
  • Membrane Proteins

Supplementary concepts

  • X-Linked Infantile Nystagmus