Background Achondroplasia (ACH) is the most common genetic form of dwarfism and belongs to dominant monogenic disorder caused by a gain-of-function point mutation in the transmembrane region of FGFR3. There are no effective treatments for ACH. Stem cells and gene-editing technology provide us with effective methods and ideas for ACH research and treatment.

中文翻译：

---

软骨发育不全患者来源的 iPSC 中的靶向基因校正和功能恢复

背景软骨发育不全 (ACH) 是侏儒症最常见的遗传形式，属于显性单基因疾病，由FGFR3跨膜区的功能获得性点突变引起。ACH 没有有效的治疗方法。干细胞和基因编辑技术为我们提供了有效的 ACH 研究和治疗方法和思路。