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Updated: Jun 23, 2025

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在Osteogenesis Imperfecta型V中的IFITM5突变与ERK/SOX9依赖的骨质生殖器分化缺陷有关

Ronit Marom1,2, I-Wen Song1, Emily C Busse1,3

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

The Journal of clinical investigation
|June 17, 2024
PubMed
概括

骨质发育不完善型V是由IFITM5.5中的突变引起的. 这项研究表明,这种突变通过影响软骨细胞和信号通路,损害了骨发育.

关键词:
骨生物学 骨生物学骨的发育 骨的发育骨疾病是一种骨疾病.软骨和软骨是一种遗传学 遗传学 是一个

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