Article
Genetics of pheochromocytoma and paraganglioma in Spanish patients.
The Journal of clinical endocrinology and metabolism - 1 May 2009
Cascón Alberto, Pita Guillermo, Burnichon Nelly, Landa Iñigo, López-Jiménez Elena, Montero-Conde Cristina, Leskelä Susanna, Leandro-García Luis Javier, Letón Rocío, Rodríguez-Antona Cristina, Díaz José Angel, López-Vidriero Emilio, González-Neira Anna, Velasco Ana, Matias-Guiu Xavier, Gimenez-Roqueplo Anne-Paule, Robledo Mercedes
Abstract excerpt
CONTEXT: The presence of familial history in pheochromocytoma/paraganglioma patients, including syndromic antecedents, leads in the majority of cases to a positive genetic testing for mutations in one of the major susceptibility genes described so far. Furthermore, it has been reported that in the absence of familial antecedents, about 11-24% of patients also carry a mutation in one of these related genes. In...
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