The Clinical Phenotype of SDHC-Associated Hereditary Paraganglioma Syndrome (PGL3)

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...

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Autori principali: Else, Tobias, Marvin, Monica L., Everett, Jessica N., Gruber, Stephen B., Arts, H. Alexander, Stoffel, Elena M., Auchus, Richard J., Raymond, Victoria M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2014
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JCEM Online: Advances in Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121019/
https://ncbi.nlm.nih.gov/pubmed/24758179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3853
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