Four-month-old with severe <i>PIK3CA</i>-related overgrowth spectrum disorder successfully treated with alpelisb

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dc.contributor.authorCossio, Maria-Laura
dc.contributor.authorRodriguez, Josefina
dc.contributor.authorFlores, Juan Carlos
dc.contributor.authorDe Barbieri, Florencia
dc.contributor.authorFlores, Alvaro
dc.contributor.authorMarin, Jose
dc.contributor.authorFlorin, Carla
dc.contributor.authorCuevas, Francisco
dc.contributor.authorGutierrez, Monserrat
dc.date.accessioned2025-01-20T17:08:20Z
dc.date.available2025-01-20T17:08:20Z
dc.date.issued2024
dc.description.abstractPIK3CA-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.
dc.fuente.origenWOS
dc.identifier.doi10.1111/pde.15582
dc.identifier.eissn1525-1470
dc.identifier.issn0736-8046
dc.identifier.urihttps://doi.org/10.1111/pde.15582
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/90940
dc.identifier.wosidWOS:001180107300001
dc.issue.numero4
dc.language.isoen
dc.pagina.final717
dc.pagina.inicio714
dc.revistaPediatric dermatology
dc.rightsacceso restringido
dc.subjectpharmacotherapy
dc.subjectvascular anomalies
dc.subjectvascular malformations
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleFour-month-old with severe <i>PIK3CA</i>-related overgrowth spectrum disorder successfully treated with alpelisb
dc.typeartículo
dc.volumen41
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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