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

Alessandro Mussa; Chiara Leoni; Matteo Iacoviello; Diana Carli; Carlotta Ranieri; Antonino Pantaleo; Paola Sabrina Buonuomo; Rosanna Bagnulo; Giovanni Battista Ferrero; Andrea Bartuli; Daniela Melis; Silvia Maitz; Daria Carmela Loconte; Antonella Turchiano; Marilidia Piglionica; Annunziata De Luisi; Francesco Claudio Susca; Nenad Bukvic; Cinzia Forleo; Angelo Selicorni; Giuseppe Zampino; Roberta Onesimo; Gerarda Cappuccio; Livia Garavelli; Chiara Novelli; Luigi Memo; Carla Morando; Matteo Della Monica; Maria Accadia; Martina Capurso; Carmelo Piscopo; Anna Cereda; Marilena Carmela Di Giacomo; Veronica Saletti; Alessandro Mauro Spinelli; Patrizia Lastella; Romano Tenconi; Veronika Dvorakova; Alan D Irvine; Nicoletta Resta

doi:10.1136/jmedgenet-2021-108093

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Genotype-phenotype correlations

Original research

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

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	Abstract	Full	Pdf
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Total	11637	1043	612

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