SAT-320 A Synonymous Pathogenic Variant (p.l180=) in SDHB Gene Identified in a Young Patient with Abdominal Paraganglioma

Background: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from chromaffin cells. More than 30% of patients with PPGL have a hereditary predisposition. To date, at least 14 tumor susceptibility genes have been described. Mutations in the succinate dehydrogenase comple...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Endocr Soc
Päätekijät: Petenuci, Janaina, Pereira, Maria Adelaide, Zerbini, Maria Cláudia, Yamauchi, Fernando, Srougi, Victor, Tanno, Fabio, Chambo, Jose Luis, Latronico, Ana Claudia, Mendonca, Berenice, Fragoso, Maria, Almeida, Madson
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Endocrine Society 2019
Aiheet:
Tumor Biology
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552258/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-320
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