Articles with "pgl pcc" as a keyword



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The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.

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Published in 2018 at "Human pathology"

DOI: 10.1016/j.humpath.2017.10.013

Abstract: A significant portion of paragangliomas (PGL) and pheochromocytomas (PCC) occur in patients with hereditary PGL/PCC syndromes, including those with germline mutations in succinate dehydrogenase (SDHx) subunit genes. Recently, germline fumarate hydratase (FH) mutations have been… read more here.

Keywords: pgl pcc; pcc; sdhb immunohistochemistry; ihc ... See more keywords
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Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore

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Published in 2020 at "Hereditary Cancer in Clinical Practice"

DOI: 10.1186/s13053-020-00156-9

Abstract: Background Hereditary paraganglioma (PGL) and pheochromocytoma (PCC) syndromes are rare conditions, with limited data on spectrum of causative gene variants of these syndromes in Asian patients. Methods We describe the clinical characteristics and genetic testing… read more here.

Keywords: pgl pcc; pheochromocytoma; genetics; pgl ... See more keywords