Article
Clinical and auxological characteristics and quality of life of 50 children and adolescents with segmental overgrowth syndromes at a single center.
Archivos argentinos de pediatria - 1 Dec 2023
Wolf María V, Moresco Angélica A, Fano Virginia, Caino Silvia
Abstract excerpt
Introduction. Segmental overgrowth syndromes are a group of rare diseases characterized by overgrowth in one or more parts of the body, mostly related to mosaic mutations in the AKT/PI3K/mTOR and RAS- MAPK signaling pathway. Our objective was to analyze the clinical and auxological characteristics and health-related quality of life (HRQoL) in this group of patients at a tertiary care hospital. Population and...
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