Browsing by Author "Marin, Jose"

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    Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb
    (2024) Cossio, Maria-Laura; Rodriguez, Josefina; Flores, Juan Carlos; De Barbieri, Florencia; Flores, Alvaro; Marin, Jose; Florin, Carla; Cuevas, Francisco; Gutierrez, Monserrat
    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.