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Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.

İlknur Sürücü KaraEngin KöseBusranur Erozan CavdarliFatma Tuba Eminoğlu
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
The presented case indicates that NCL11 should be taken into account in patients with epilepsy and neurodegenerative diseases.
Keyphrases
  • copy number
  • case report
  • genome wide
  • genome wide identification
  • cerebral ischemia
  • dna methylation
  • gene expression
  • transcription factor
  • subarachnoid hemorrhage