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LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.

Karthik MuthusamyMaciej M MrugalaBernard R BendokRadhika Dhamija
Published in: Molecular genetics & genomic medicine (2020)
We emphasize the need for high index of suspicion and comprehensive genetic testing in complex phenotypes. Interrogation of the interplay between the pathogenic variants in multiple genes could improve our understanding of the pathophysiologic pathways and contribute to therapeutic discoveries.
Keyphrases
  • spinal cord
  • copy number
  • case report
  • dna methylation
  • transcription factor
  • genome wide identification
  • drug induced