Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

por Piro, Ettore, Schierz, Ingrid Anne Mandy, Antona, Vincenzo, Pappalardo, Maria Pia, Giuffrè, Mario, Serra, Gregorio, Corsello, Giovanni
Publicado 2020

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

por Pelizzo, Gloria, Collura, Mirella, Puglisi, Aurora, Pappalardo, Maria Pia, Agolini, Emanuele, Novelli, Antonio, Piccione, Maria, Cacace, Caterina, Bussani, Rossana, Corsello, Giovanni, Calcaterra, Valeria
Publicado 2019