The Clinical Phenotype of <i>SDHC</i>-Associated Hereditary Paraganglioma Syndrome (PGL3)

Abstract

Our findings suggest that thoracic paragangliomas are common in patients with SDHC mutations, and imaging of this area should be included in surveillance of mutation carriers. In addition, the absence of paragangliomas among at-risk relatives of SDHC mutation carriers suggests a less penetrant phenotype as compared to SDHB and SDHD mutations.