软骨发育不全
软骨内骨化
成纤维细胞生长因子受体3
侏儒症
成纤维细胞生长因子受体
医学
骨化
自然史
成纤维细胞生长因子
生物信息学
儿科
遗传学
受体
内科学
基因
解剖
生物
软骨
作者
Ravi Savarirayan,Julie Hoover‐Fong,Patrick Yap,Svein O. Fredwall
标识
DOI:10.1016/s2352-4642(23)00310-3
摘要
Achondroplasia is the most common form of dwarfism in humans, caused by a common pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which impairs the process of endochondral ossification of the growing skeleton. In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. We then focus on the new and emerging drug therapies that target the underlying pathogenesis of this condition. These new options are changing the natural growth patterns of achondroplasia, with the prospect of better long-term health outcomes for patients.
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