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Article

Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jul 2017

Bardai G, Ward L M, Trejo P, Moffatt P, Glorieux F H, Rauch F

Abstract excerpt

In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes. INTRODUCTION: In children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Low Density Lipoprotein Receptor-Related Protein-5

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Source

Identifiers

PMID: 28378289
DOI: 10.1007/s00198-017-4031-2

Genes

BMP1
LRP5
PLS3

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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