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    • Mutations in known monogenic High Bone Mass loci only explain a small proportion of High Bone Mass cases 

      Gregson, Celia L; Wheeler, Lawrie; Hardcastle, Sarah A; Appleton, Louise H; Addison, Kathryn A; Brugmans, Marieke; Clark, Graeme Richard et al. (Wiley, 2015-10-06)
      High bone mass (HBM) can be an incidental clinical finding; however, monogenic HBM disorders (eg, LRP5 or SOST mutations) are rare. We aimed to determine to what extent HBM is explained by mutations in known HBM genes. A ...