A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization

Multiple endocrine neoplasia (MEN) syndromes are characterized by tumors involving two or more endocrine glands. Two MEN syndromes have long been known: MEN1 and MEN2, caused by germline mutations in MEN1 or RET, respectively. Recently, mutations in CDKN1B, encoding the cyclin-dependent kinase (Cdk)...

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Main Authors: Molatore, Sara, Marinoni, Ilaria, Lee, Misu, Pulz, Elke, Ambrosio, Maria Rosaria, Uberti, Ettore C degli, Zatelli, Maria Chiara, Pellegata, Natalia S
Formato: Artigo
Idioma:Inglês
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Assuntos:
Mutation in Brief
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3051264/
https://ncbi.nlm.nih.gov/pubmed/20824794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21354
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