Mutations in <it>LRP5 </it>cause primary osteoporosis without features of OI by reducing Wnt signaling activity

• Main Authors: Korvala Johanna (Author), Jüppner Harald (Author), Mäkitie Outi (Author), Sochett Etienne (Author), Schnabel Dirk (Author), Mora Stefano (Author), Bartels Cynthia F (Author), Warman Matthew L (Author), Deraska Donald (Author), Cole William G (Author), Hartikka Heini (Author), Ala-Kokko Leena (Author), Männikkö Minna (Author)
• Format: Book
• Published: BMC, 2012-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 in the Low-density lip...