软骨发育不全
医学
身材矮小
成纤维细胞生长因子受体1
内科学
儿科
内分泌学
成纤维细胞生长因子
受体
作者
Ravi Savarirayan,Josep Maria De Bergua,Paul Arundel,Jean‐Pierre Salles,Vrinda Saraff,Borja Delgado,Antonio Leiva-Gea,Helen McDevitt,Marc Nicolino,Massimiliano Rossi,M. Salcedo,Valérie Cormier‐Daire,Mars Skae,Pekka Kannus,John A. Phillips,Howard M. Saal,Paul Harmatz,Toby Candler,Dawn Hill,Elena Muslimova
标识
DOI：10.1056/nejmoa2411790
摘要
Achondroplasia is a genetic skeletal condition that results in disproportionately short stature and medical complications throughout life. Infigratinib is an orally bioavailable FGFR1-3 selective tyrosine kinase inhibitor in development for achondroplasia.
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