Article
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.
European journal of medical genetics - 1 Oct 2012
Korvala Johanna, Löija Marika, Mäkitie Outi, Sochett Etienne, Jüppner Harald, Schnabel Dirk, Mora Stefano, Cole William G, Ala-Kokko Leena, Männikkö Minna
Abstract excerpt
Childhood-onset primary osteoporosis is manifested as reduced bone mineral density, peripheral fractures and/or vertebral compression fractures. Until now, only mutations in LRP5 have been shown to cause the disorder. Candidate gene analyses were performed on 15 patients with primary osteoporosis and 80 healthy controls using CSGE and sequencing. The genes studied included DKK1, DKK2, WNT3A, WNT10B, AXIN1, SOST,...
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