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Article

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2005

Rickels Michael R, Zhang Xiafang, Mumm Steven, Whyte Michael P

Abstract excerpt

UNLABELLED: Gain-of-function mutation in the gene encoding LRP5 causes high bone mass. A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign. INTRODUCTION: Gain-of-function mutation (Gly171Val) of LDL receptor-related protein 5 (LRP5) was discovered in 2002 in...

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Source

Identifiers

PMID: 15824861
DOI: 10.1359/JBMR.041223

Genes

LRP5

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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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