Linking genetic variants to bone microstructure: Histological signatures of osteogenesis imperfecta subtypes.

doi:10.1016/j.bone.2026.118001

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Article

Linking genetic variants to bone microstructure: Histological signatures of osteogenesis imperfecta subtypes.

Bone - 1 Nov 2026

Wu Zhiming, Scheepens Karlijn, den Haan Suzanne, Nijhuis Wouter, Weinans Harrie, Sakkers Ralph, Spaans Anne, Warmink Kelly

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder characterized by bone fragility, skeletal deformities, and wide clinical variability. While clinical manifestations of OI are well recognized, the microstructural relationships of specific genetic subtypes remain less systematically addressed. Therefore, we aimed to examine and review mutations in genes involved in collagen...

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PMID: 42386139
DOI: 10.1016/j.bone.2026.118001

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