Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
CBL 肿瘤抑制基因的杂合生殖系突变导致 Noonan 综合征样表型
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.06.015
Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, Maria C Digilio, Maria L Cavaliere, Johanna M van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni