医学
女孩
表型
体细胞
广谱
内科学
儿科
胃肠病学
遗传学
生物
基因
组合化学
化学
作者
M Cossio,Josefina Rodríguez,Juan Carlos Flores,Florencia De Barbieri,Álvaro Flores,José Antonio Marín Marín,Carla Florin,Francisco Cuevas,Monserrat Gutiérrez
摘要
PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.
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