Article
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
The Journal of clinical endocrinology and metabolism - 1 Mar 2010
Toledo Rodrigo A, Wagner Simona M, Coutinho Flavia L, Lourenço Delmar M, Azevedo Juliana A, Longuini Viviane C, Reis Mariana T A, Siqueira Sheila A C, Lucon Antonio M, Tavares Marcos R, Fragoso Maria C B V, Pereira Adelaide A, Dahia Patricia L M, Mulligan Lois M, Toledo Sergio P A
Abstract excerpt
CONTEXT: Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes. OBJECTIVE: Our objective was to report the clinical features of patients harboring a previously unreported double mutation of the RET gene and to characterize this mutation in vitro. PATIENTS: Sixteen patients from four unrelated families and harboring the...
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