Article
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Human mutation - 1 Aug 2015
Martinelli Simone, Stellacci Emilia, Pannone Luca, D'Agostino Daniela, Consoli Federica, Lissewski Christina, Silvano Marianna, Cencelli Giulia, Lepri Francesca, Maitz Silvia, Pauli Silke, Rauch Anita, Zampino Giuseppe, Selicorni Angelo, Melançon Serge, Digilio Maria C, Gelb Bruce D, De Luca Alessandro, Dallapiccola Bruno, Zenker Martin, Tartaglia Marco
Abstract excerpt
Noonan syndrome (NS) is a relatively common developmental disorder with a pleomorphic phenotype. Mutations causing NS alter genes encoding proteins involved in the RAS-MAPK pathway. We and others identified Casitas B-lineage lymphoma proto-oncogene (CBL), which encodes an E3-ubiquitin ligase acting as a tumor suppressor in myeloid malignancies, as a disease gene underlying a condition clinically related to NS....
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