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Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.

Mikako WarrenMoe TakedaArthur PartikianLawrence OpasRichard FineShoji Yano
Published in: Pediatric nephrology (Berlin, Germany) (2020)
De novo truncating mutations of TRIM8 have been previously reported in childhood-onset epileptic encephalopathy. A molecular analysis of TRIM8 should be considered in children with FSGS and clinical abnormalities of the central nervous system.
Keyphrases
  • young adults
  • early life
  • childhood cancer
  • early onset
  • genome wide
  • copy number
  • cerebrospinal fluid
  • gene expression
  • genome wide identification