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Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.

Basamat AlmoallemEssam Alharthi
Published in: Ophthalmic genetics (2022)
gene and expands its phenotypic spectrum.
Keyphrases
  • optical coherence tomography
  • case report
  • intellectual disability
  • copy number
  • genome wide
  • genome wide identification
  • saudi arabia
  • autism spectrum disorder
  • dna methylation
  • transcription factor