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Article

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.

Bone - 1 Sept 2011

Pangrazio Alessandra, Boudin Eveline, Piters Elke, Damante Giuseppe, Lo Iacono Nadia, D'Elia Angela Valentina, Vezzoni Paolo, Van Hul Wim, Villa Anna, Sobacchi Cristina

Abstract excerpt

In the last decade, the low-density lipoprotein receptor-related protein 5 (LRP5) gene, coding for a coreceptor in the canonical Wnt signalling pathway, has been shown to play an important role in regulating bone mass and to be involved in the pathogenesis of several bone disorders. Here we describe a patient who presented with a clinical picture of Autosomal Dominant Osteopetrosis type I (ADO I), in whom we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21600326
DOI: 10.1016/j.bone.2011.05.006
PMCID: PMC3149657

Genes

LRP5
ADO
DKK1
SOST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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