Intra-familial phenotype variability in patients with Jalili syndrome

Eye (Lond). 2015 May;29(5):712-6. doi: 10.1038/eye.2014.314. Epub 2015 Jan 23.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amelogenesis Imperfecta / genetics*
  • Amelogenesis Imperfecta / pathology*
  • Cation Transport Proteins / genetics*
  • Cone-Rod Dystrophies
  • DNA Mutational Analysis
  • Electroretinography
  • Genetic Variation*
  • Humans
  • Mutation*
  • Phenotype
  • Retina / pathology*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology*
  • Siblings
  • Tomography, Optical Coherence

Substances

  • CNNM4 protein, human
  • Cation Transport Proteins
  • Jalili syndrome