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multiple paragangliomata


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Tumours (glomus tumours) derived from paraganglia located throughout the body. Those in which the cells are chromaffin types have endocrine activity and are usually referred to as phaeochromocytomas. Familial paragangliomas-1 (PGL1) is caused by mutation in the SDHD gene, which encodes the small subunit of cytochrome B in succinate-ubiquinone oxidoreductase. PGL2 has been mapped to chromosome 11q13. PGL3 and PGL4 are a result of mutations in genes for other subunits of the oxidoreductase.

Subjects: Medicine and Health.


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