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A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

Banu BozkurtOzkan BağcıSema ÜzümTülin Çora
Published in: Ophthalmic genetics (2024)
We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.
Keyphrases
  • optic nerve
  • intellectual disability
  • copy number
  • genome wide
  • multiple sclerosis
  • genome wide identification
  • oxidative stress
  • optical coherence tomography
  • early onset
  • dna methylation
  • gene expression