Article
[Familial paraganglioma syndrome: phenotype and relevance of a new SDHB mutation].
Medicina clinica - 13 May 2013
Díaz-Soto Gonzalo, Serrano Morte Almudena, Rodríguez Martín Cristina, García-Talavera Paloma, Abril Carlos M, Puig-Domingo Manuel
Abstract excerpt
BACKGROUND AND OBJECTIVE: Advances in molecular biology have discovered new genes involved in the development of familial paraganglioma syndrome (PGL) including those encoding mitochondrial succinate dehydrogenase complex (SDH). We describe the diagnosis, clinical expression and genetic counselling in a family diagnosed of PGL due to a new SDHB mutation. PATIENTS AND METHOD: Genetic study by PCR-direct sequencing...
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