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Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.

Iman S AbumansourNataliya YuskivEduard PaschkeSylvia Stockler-Ipsiroglu
Published in: JIMD reports (2019)
Data provide a basis for future systematic collection of clinical, biochemical, morphologic, and genetic data of this ultra-rare condition.
Keyphrases
  • electronic health record
  • genome wide
  • big data
  • copy number
  • high resolution
  • high throughput
  • current status
  • dna methylation
  • mass spectrometry