Expanding phenotype of FAM111B ‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym

por Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Cortellessa, Fabiana, Gonfiantini, Michaela V., Buonuomo, Paola S., Pietrobattista, Andrea, Francalanci, Paola, Travaglini, Lorena, Bertini, Enrico S., El Hachem, Maya, Bartuli, Andrea
Publicado 2022

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

por Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Gonfiantini, Michaela V., Cortellessa, Fabiana, Caciolo, Cristina, Zollino, Marcella, Accadia, Maria, Seri, Marco, Chinali , Marcello, Mammì, Corrado, Tartaglia, Marco, Bartuli, Andrea, Alfieri, Paolo, Priolo, Manuela
Publicado 2022