CBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is characterized by heterogeneous clinical phenotype, including developmental delay, facia...
Authors:
Francesco Baccelli, Davide Leardini, Edoardo Muratore, Daria Messelodi, Salvatore Nicola Bertuccio, Maria Chiriaco, Caterina Cancrini, Francesca Conti, Fausto Castagnetti, Lucia Pedace, Andrea Pession, Ayami Yoshimi, Charlotte Niemeyer, Marco Tartaglia, Franco Locatelli and Riccardo Masetti
Citation:
Human Genomics
2022
16:40
Content type: Research
Published on: 19 September 2022