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
body composition
toll like receptor
genome wide
artificial intelligence