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Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.

Anna DurkinCatherine DeVilePaul ArundelMary BullJennifer WalshNicholas J BishopEmilie HupinSusan ParekhRamesh NadarajahAmaka C OffiahAlistair CalderJoanna BrockDuncan BakerMeena Balasubramanian
Published in: Journal of medical genetics (2021)
Common phenotypic expressions include delayed motor development with neuromuscular weakness, scoliosis and multiple fractures. The data presented here broaden the phenotypic spectrum establishing similar patterns of neuromuscular presentation with a presumed diagnosis of 'myopathy'.
Keyphrases
  • case report
  • electronic health record
  • copy number
  • late onset
  • big data
  • bone regeneration
  • early onset
  • drug induced