Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype - Martinelli, Simone; De Luca, Alessandro; Stellacci, Emilia; Rossi, Cesare; Checquolo, Saula; Lepri, Francesca; Caputo, Viviana; Silvano, Marianna; Buscherini, Francesco; Consoli, Federica; Ferrara, Grazia; Digilio, Maria C.; et al. (American journal of human genetics, 2010)
Keywords: Amino Acid Substitution - genetics; Base Sequence; Biological and medical sciences; Diseases of the osteoarticular system; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic disorders; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Germ-Line Mutation - genetics; Heterozygote; Humans; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Mutant Proteins - genetics; Mutation; Noonan Syndrome - genetics; Phenotype; Proto-Oncogene Proteins c-cbl - genetics; Tumor Suppressor Proteins - genetics; Tumors; Human; Nervous system diseases; Phenotype; Germ line; Noonan syndrome; Diseases of the osteoarticular system; Cardiovascular disease; Genetics; Mutation; Osteochondrodysplasia; Genetic disease; Tumor suppressor gene