Article
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
The Journal of clinical endocrinology and metabolism - 1 Aug 2014
Else Tobias, Marvin Monica L, Everett Jessica N, Gruber Stephen B, Arts H Alexander, Stoffel Elena M, Auchus Richard J, Raymond Victoria M
Abstract excerpt
CONTEXT: Mutations in the genes encoding subunits of the succinate dehydrogenase complex cause hereditary paraganglioma syndromes. Although the phenotypes associated with the more commonly mutated genes, SDHB and SDHD, are well described, less is known about SDHC-associated paragangliomas. OBJECTIVE: To describe functionality, penetrance, number of primary tumors, biological behavior, and location of...
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