Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

by Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Published 2020-12-01

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

by Carmela Fusco, Grazia Nardella, Bartolomeo Augello, Francesca Boccafoschi, Orazio Palumbo, Luca Fusaro, Angelantonio Notarangelo, Raffaela Barbano, Paola Parrella, Giuseppina Annicchiarico, Carmela De De Meco, Lucia Micale, Paolo Graziano, Marco Castori
Published 2020-07-01