Article
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
European journal of human genetics : EJHG - 1 Nov 2023
Reynolds Giuseppe, Cardaropoli Simona, Carli Diana, Luca Maria, Gazzin Andrea, Coppo Paola, La Selva Roberta, Piglionica Marilidia, Bagnulo Rosanna, Turchiano Antonella, Ranieri Carlotta, Resta Nicoletta, Mussa Alessandro
Abstract excerpt
PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes, collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These gain-of-function variants arise postzygotically, and, according to time of onset, kind of embryonal tissue affected and regional body extension, give rise to heterogeneous phenotypes. PROS rarity and heterogeneity hamper the correct estimation of its epidemiology....
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