A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

by Catia Mio, Nadia Passon, Federico Fogolari, Claudia Cesario, Antonio Novelli, Carla Pittini, Giuseppe Damante
Published 2021-09-01

Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

by Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem
Published 2021-02-01

First Case of <i>KRT2</i> Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

by Andrea Diociaiuti, Daniele Castiglia, Marialuisa Corbeddu, Roberta Rotunno, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem
Published 2020-10-01

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

by Andrea Diociaiuti, Guglielmo Paolantonio, Mario Zama, Rita Alaggio, Claudia Carnevale, Andrea Conforti, Claudia Cesario, Maria Lisa Dentici, Paola Sabrina Buonuomo, Massimo Rollo, May El Hachem
Published 2021-10-01

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

by Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Published 2021-06-01