Genetics of pheochromocytoma and paraganglioma in Spanish patients.

  title={Genetics of pheochromocytoma and paraganglioma in Spanish patients.},
  author={Alberto Casc{\'o}n and Guillermo Pita and Nelly Burnichon and Iňigo Landa and Elena L{\'o}pez-Jim{\'e}nez and Cristina Montero-Conde and Susanna Leskel{\"a} and Luis Javier Leandro-Garc{\'i}a and Roc{\'i}o Let{\'o}n and Cristina Rodr{\'i}guez-Antona and Jos{\'e} Angel Gutierrez Diaz and E. L{\'o}pez-Vidriero and Anna Gonz{\'a}lez-Neira and Ana Benitez Velasco and Xavier Mat{\'i}as-Guiu and Anne-paule Gimenez-Roqueplo and Mercedes Robledo},
  journal={The Journal of clinical endocrinology and metabolism},
  volume={94 5},
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 these cases, other clinical aspects like bilaterality, multiplicity, location of the… CONTINUE READING

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