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Article

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

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

Hartikka Heini, Mäkitie Outi, Männikkö Minna, Doria Andrea S, Daneman Alan, Cole William G, Ala-Kokko Leena, Sochett Etienne B

Abstract excerpt

UNLABELLED: Three of 20 patients with juvenile osteoporosis were found to have a heterozygous mutation in the LRP5 gene. No mutations were found in the type I collagen genes. Mutations in the other family members with similar bone phenotype confirmed that LRP5 has a role in both juvenile and adult osteoporosis. INTRODUCTION: The gene encoding the low-density lipoprotein receptor-related protein 5 (LRP5) gene has...

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Source

Identifiers

PMID: 15824851
DOI: 10.1359/JBMR.050101

Genes

LRP5

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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