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ACH病因明确,由FGFR3基因的功能获得性突变导致。该基因调控骨骺生长板软骨细胞增殖分化的重要负调节因子,当其持续激活时,长骨生长被抑制,最终形成特征性的四肢短小身材。,这一点在夫子中也有详细论述
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