Ontology highlight
ABSTRACT:
SUBMITTER: Prasad C
PROVIDER: S-EPMC4857366 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Prasad Chaithra C Oakley Gerard J GJ Yip Linwah L Coyne Christopher C Rangaswamy Balasubramanya B Dixit Sanjay B SB
SAGE open medical case reports 20141006
Germline mutations in the succinate dehydrogenase complex subunit D gene are now known to be associated with hereditary paraganglioma-pheochromocytoma syndromes. Since the initial succinate dehydrogenase complex subunit D gene mutation was identified about a decade ago, more than 131 unique variants have been reported. We report the case of two siblings presenting with multiple paragangliomas and pheochromocytomas; they were both found to carry a mutation in the succinate dehydrogenase complex s ...[more]