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Article

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.

Bone - 1 Feb 2018

Roetzer K M, Uyanik G, Brehm A, Zwerina J, Zandieh S, Czech T, Roschger P, Misof B M, Klaushofer K

Abstract excerpt

The Wnt signalling pathway is a critical regulator of bone mass and quality. Several heterozygous mutations in the LRP5 gene, a Wnt co-receptor, causing high bone mass (LRP5-HBM) have been described to date. The pathogenic mechanism is thought to be a gain-of-function caused by impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone formation. We report the cases of two...

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Source

Identifiers

PMID: 29208525
DOI: 10.1016/j.bone.2017.12.002

Genes

LRP5
HBM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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