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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas.

Naoko FukunagaTakaaki HayashiYuki YamadaKei MizobuchiArihito OhtaTadashi Nakano
Published in: Ophthalmic genetics (2023)
variants and bilateral optic atrophy remains unclear, further investigations are required.
Keyphrases
  • optical coherence tomography
  • optic nerve
  • signaling pathway
  • case report
  • high grade
  • oxidative stress
  • lps induced
  • gene expression
  • nuclear factor
  • cell proliferation
  • inflammatory response
  • toll like receptor