paraganglioma syndrome

(PGL) an autosomal dominant disorder characterized by tumors of the paraganglia, most frequently of the carotid body, classified into four forms (PGL1–PGL4) on the basis of the site of the mutation; three result from mutations in genes coding for subunits of succinate dehydrogenase, while the site of mutation in the fourth (PGL2) is unknown.

Medical dictionary. 2011.

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