Clinical features and molecular characterization of Chinese patients with FKBP10 variants.

Zhijia Tan,Hiu Tung Shek,Peikai Chen,Zhongxin Dong,Yapeng Zhou,Shijie Yin,Anmei Qiu,Lina Dong,Bo Gao,Michael Kai Tsun To

Molecular genetics & genomic medicine（2023）

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摘要

Our study characterized the clinical features of OI patients with FKBP10 variants and revealed the pathogenesis of the c.918-3C > G variant. The molecular analyses helped to gain insight into the deleterious effects of FKBP10 variants on collagen processing and osteoblast differentiation.

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关键词

FKBP10 ,genetics,osteogenesis imperfecta

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