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#gene editing Review Open access Sep 2026

Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.

BACKGROUND Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal dysplasia characterized by systemic bone fragility. Beyond skeletal manifestations, OI is a multisystem condition involving dentinogenesis imperfecta, hearing loss, joint hyperlaxity, and cardiopulmonary complications. The di...

Xue-Qian Wang, Cai Zhang, Xin Li et al. · 0 citations
Sep 2026

Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.

By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.

Zhiying Li, Xin Li, Tian-Lian Wen et al. · 0 citations

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