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[Features of genetic mutations in children with high myopia combined with peripheral retinal degenerations].

Marianna E WeenerS A ObrubovDebmalya BarhA A GubanovV S Yushina
Published in: Vestnik oftalmologii (2024)
The results of the conducted molecular genetic testing expand our understanding of the mutation spectrum in the genes of children with both isolated cases of ophthalmic pathology, as well as syndromic pathology.
Keyphrases
  • young adults
  • genome wide
  • optical coherence tomography
  • diabetic retinopathy
  • intellectual disability
  • dna methylation
  • gene expression
  • autism spectrum disorder
  • copy number