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Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Jose L Fernandez-LunaJosé L HernándezSoraya Curiel-OlmoNéstor A Martínez-AmadorAna I VegaRemedios QuirceSantiago Montes-MorenoOlga GutierrezÁlvaro Del RealCarolina SañudoJose A Riancho
Published in: Molecular genetics & genomic medicine (2024)
Our data indicate impaired bone resorption as the underlying mechanism of this rare osteosclerosis, implicating ALOX5 pathogenic variants as potential etiological factors.
Keyphrases
  • bone loss
  • electronic health record
  • copy number
  • bone mineral density
  • big data
  • soft tissue
  • human health
  • machine learning
  • immune response
  • gene expression
  • body composition
  • dna methylation
  • deep learning
  • data analysis