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Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Vasily M SmirnovEulalie LasseauxVincent MichaudCécile CourdierIsabelle MeunierBenoit ArveilerSabine Defoort-Dhellemmes
Published in: Documenta ophthalmologica. Advances in ophthalmology (2024)
AHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting.
Keyphrases
  • optical coherence tomography
  • case report
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • gene expression
  • transcription factor
  • genome wide analysis