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

Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aest...

por Panfili, Filippo Maria, Valente, Paola, Ficari, Andrea, Cortellessa, Fabiana, Vecchio, Davide, Gonfiantini, Michaela Veronika, Buonuomo, Paola Sabrina, Colafati, Giovanna Stefania, Agolini, Emanuele, Bartuli, Maria, Modugno, Alessandra Claudia, Macchiaiolo, Marina
Publicado 2023

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

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

por Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela
Publicado 2022