THE IDENTIFICATION OF mutations in the human low-density lipoprotein (LDL) receptor–
related protein 5 (LRP5) gene that give rise to conditions of low bone mass (1, 2) and …

A finding of high BMD on routine DXA scanning is not infrequent and most commonly
reflects degenerative disease. However, BMD increases may also arise secondary to a …

Bone is a dynamic tissue that is subject to the balanced processes of bone formation and
bone resorption. Imbalance can give rise to skeletal pathologies with increased bone …

The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between
common and rare disease genetics. HBM may arise from carriage of many 'high bone …

Purpose LRP5 high bone mass (HBM) is an autosomal dominant endosteal hyperostosis
caused by mutations of the low-density lipoprotein receptor-related protein 5 (LRP5) gene …

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 …

To study the effects of low-density lipoprotein receptor-related protein 5 (LRP5) gene
mutations on bone, and to open up our view of LRP5 and Wnt pathways on bone mass …

Gainoffunction mutation in the gene encoding LRP5 causes high bone mass. A 59year
old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal …

PURPOSE: Osteopetrosis (OP), also known as Albers-Schönberg disease, is a rare
metabolic bone disease caused by a congenital defect in the development or function of the …

Case 150: Van Buchem Disease (Hyperostosis Corticalis Generalisata) | Radiology RSNA "skipMainNavigation"
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