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Article

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2016

Gregson Celia L, Wheeler Lawrie, Hardcastle Sarah A, Appleton Louise H, Addison Kathryn A, Brugmans Marieke, Clark Graeme R, Ward Kate A, Paggiosi Margaret, Stone Mike, Thomas Joegi, Agarwal Rohan, Poole Kenneth E S, McCloskey Eugene, Fraser William D, Williams Eleanor, Bullock Alex N, Davey Smith George, Brown Matthew A, Tobias Jon H, Duncan Emma L

Abstract excerpt

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 total of 258 unrelated HBM cases were identified from a review of 335,115 DXA scans from 13 UK centers. Cases were assessed clinically and underwent sequencing of known anabolic HBM loci: LRP5...

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Identifiers

PMID: 26348019
DOI: 10.1002/jbmr.2706
PMCID: PMC4832273

Genes

HBM
LRP5
SOST
LRP4

Variants

Provenance

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