Article
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Journal of medical genetics - 1 Feb 2023
Mussa Alessandro, Leoni Chiara, Iacoviello Matteo, Carli Diana, Ranieri Carlotta, Pantaleo Antonino, Buonuomo Paola Sabrina, Bagnulo Rosanna, Ferrero Giovanni Battista, Bartuli Andrea, Melis Daniela, Maitz Silvia, Loconte Daria Carmela, Turchiano Antonella, Piglionica Marilidia, De Luisi Annunziata, Susca Francesco Claudio, Bukvic Nenad, Forleo Cinzia, Selicorni Angelo, Zampino Giuseppe, Onesimo Roberta, Cappuccio Gerarda, Garavelli Livia, Novelli Chiara, Memo Luigi, Morando Carla, Della Monica Matteo, Accadia Maria, Capurso Martina, Piscopo Carmelo, Cereda Anna, Di Giacomo Marilena Carmela, Saletti Veronica, Spinelli Alessandro Mauro, Lastella Patrizia, Tenconi Romano, Dvorakova Veronika, Irvine Alan D, Resta Nicoletta
Abstract excerpt
BACKGROUND: Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients and in an expanded cohort of 1007 PIK3CA-mutated patients, analysing our new data with previous literature...
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