Article
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.
The Journal of clinical endocrinology and metabolism - 1 Sept 2011
Korpershoek Esther, Favier Judith, Gaal José, Burnichon Nelly, van Gessel Bram, Oudijk Lindsey, Badoual Cécile, Gadessaud Noémie, Venisse Annabelle, Bayley Jean-Pierre, van Dooren Marieke F, de Herder Wouter W, Tissier Frédérique, Plouin Pierre-François, van Nederveen Francien H, Dinjens Winand N M, Gimenez-Roqueplo Anne-Paule, de Krijger Ronald R
Abstract excerpt
CONTEXT: Pheochromocytoma-paraganglioma syndrome is caused by mutations in SDHB, SDHC, and SDHD, encoding subunits of succinate dehydrogenase (SDH), and in SDHAF2, required for flavination of SDHA. A recent report described a patient with an abdominal paraganglioma, immunohistochemically negative for SDHA, and identified a causal germline mutation in SDHA. OBJECTIVE: In this study, we evaluated the significance...
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