HIGHLIGHTS
- who: Francesco Saettini from the Department of Pediatric Hematology, Fondazione Monza e Brianza per il Bambino e la sua Mamma (MBBM), University San Gerardo, Monza, Italy have published the article: Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome, in the Journal: (JOURNAL)
SUMMARY
Germline mutations of the CBL gene cause CBL syndrome characterized by variable phenotype involving high frequency of neurologic features, vasculitis, mild Noonan syndrome-like features, and predisposition to juvenile myelomonocytic leukemia (JMML). Although the phenotype of children affected by CBL syndrome has been increasingly delineated over . . .
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