Article
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
European journal of human genetics : EJHG - 1 Aug 2002
Cascon Alberto, Ruiz-Llorente Sergio, Cebrian Arancha, Telleria Dolores, Rivero Jose Carlos, Diez Juan Jose, Lopez-Ibarra Pablo J, Jaunsolo Miguel Angel, Benitez Javier, Robledo Mercedes
Abstract excerpt
Familial paraganglioma is a dominantly inherited disorder characterised by the development of highly vascular tumours in the head and neck. Recently, a relationship between hereditary tumours derived from the autonomic nervous system and germline mutations in the gene encoding succinate dehydrogenase complex subunit D (SDHD) is increasingly a subject of study. Familial paraganglioma syndrome is embryologically...
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