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Article

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

Clinical genetics - 1 Jun 2024

Previdi Anaïk, Dubourg Christèle, Cormier Daire Valérie, Fradin Mélanie, Collet Corinne

Abstract excerpt

Low-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare diseases and always with autosomal dominant inheritance. Here we report a familial phenotype of high bone mass associated with skeletal anomalies and oligodontia...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to SOST gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

Share to Low Density Lipoprotein Receptor-Related Protein-6

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Source

Identifiers

PMID: 38385987
DOI: 10.1111/cge.14501

Genes

LRP6
DKK1
SOST

Variants

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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