Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditi...
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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Author / Creator
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 and Resta, Nicoletta
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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More information
Scope and Contents
Contents
BackgroundPostzygotic 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-m...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
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
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2637317866
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2637317866
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-108093
