Browsing Harvard Medical School by Author "Cole, William G."

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    • Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity 

      Korvala, Johanna; Jüppner, Harald; Mäkitie, Outi; Sochett, Etienne; Schnabel, Dirk; Mora, Stefano; Bartels, Cynthia F; Warman, Matthew L.; Deraska, Donald; Cole, William G.; Hartikka, Heini; Ala-Kokko, Leena; Männikkö, Minna (BioMed Central, 2012)
      Background: Primary osteoporosis is a rare childhood-onset skeletal condition whose pathogenesis has been largely unknown. We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations ...