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Article

More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.

Molecular genetics & genomic medicine - 1 Jun 2021

Caetano da Silva Caroline, Ricquebourg Manon, Orcel Philippe, Fabre Stéphanie, Funck-Brentano Thomas, Cohen-Solal Martine, Collet Corinne

Abstract excerpt

BACKGROUND: Early-onset osteoporosis (EOOP) is defined by low bone mineral density (BMD), which increases the risk of fracture. Although the prevalence of osteoporosis at a young age is unknown, low BMD is highly linked to genetic background. Heterozygous pathogenic variants in low-density lipoprotein receptor-related protein 5 (LRP5) are associated with EOOP. This study aimed to investigate the genetic profile...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33939331
DOI: 10.1002/mgg3.1681
PMCID: PMC8222848

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