IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

Por Passarelli, Chiara, Civino, Adele, Rossi, Marianna N., Cifaldi, Loredana, Lanari, Valentina, Moneta, Gian Marco, Caiello, Ivan, Bracaglia, Claudia, Montinaro, Raffaele, Novelli, Antonio, De Benedetti, Fabrizio, Prencipe, Giusi
Publicado no Front Genet (2020)

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Por Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Publicado no Eur J Hum Genet (2015)