Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta

Genetic stratification in adult OI patients revealed differences in bone microstructure, while these were absent when individuals were grouped according OI types (Sillence classification). Future studies are needed to further investigate the genotype-phenotype correlation in patients with classical OI.

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Publication Details

Journal
Osteoporosis International
Published
2025-12-09
DOI
https://doi.org/10.1007/s00198-025-07774-w
Primary Topic
Connective tissue disorders research
Type
article
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article

Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta

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Osteoporosis International
Connective tissue disorders research
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Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta

Uwe Kornak, Florian Barvencik, Julian Delsmann, Mikolaj Bartosik, Ralf Oheim, Julia Oswald, Thorsten Schinke, Michael Amling, Mascha Prengel
article en

Abstract

Genetic stratification in adult OI patients revealed differences in bone microstructure, while these were absent when individuals were grouped according OI types (Sillence classification). Future studies are needed to further investigate the genotype-phenotype correlation in patients with classical OI.

Osteoporosis InternationalVol. 37(1)
Universität Hamburg (DE), University Medical Center Hamburg-Eppendorf (DE), Universitätsmedizin Göttingen (DE)
Openalex Percentile: Top 59%
Connective tissue disorders research
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