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- Title
Paediatric bilateral adrenal phaeochromocytomas in association with a novel mutation in the von Hippel Lindau gene.
- Authors
Kim, Leo; Holland, Andrew J A; Srinivasan, Shubha; Cowell, Chris T; Benn, Dindy E; Robinson, Bruce G
- Abstract
Functional phaeochromocytoma and paraganglioma are rare in children and adolescents. We report a 12-year-old male with bilateral phaeochromocytoma in whom germ line testing identified a novel mutation in the von Hippel Lindau gene. Early age of onset, bilateral phaeochromocytoma and other clinical features should prompt germ line DNA testing for mutations in genes associated with familial phaeochromocytoma and paraganglioma syndromes.
- Publication
Journal of paediatrics and child health, 2008, Vol 44, Issue 9, p514
- ISSN
1440-1754
- Publication type
Journal Article
- DOI
10.1111/j.1440-1754.2008.01360.x