Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

by Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazzà, Cristiano Simone, Nicoletta Resta
Published 2019-08-01

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

by Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova
Published 2021-02-01

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinestera...

by Nicola Laforgia, Lucrezia De Cosmo, Orazio Palumbo, Carlotta Ranieri, Michela Sesta, Donatella Capodiferro, Antonino Pantaleo, Pierluigi Iapicca, Patrizia Lastella, Manuela Capozza, Federico Schettini, Nenad Bukvic, Rosanna Bagnulo, Nicoletta Resta
Published 2020-12-01