Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3801363 | Medicina Clínica | 2013 | 5 Pages |
Abstract
We describe the pathogenicity, diagnostic algorithm, genetic counselling and clinical expression of a new SDHB mutation (c.287-3C>G) in a family diagnosed of PGL.
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Authors
Gonzalo DÃaz-Soto, Almudena Serrano Morte, Cristina RodrÃguez MartÃn, Paloma GarcÃa-Talavera, Carlos M. Abril, Manuel Puig-Domingo,