Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma
Sign Up to like & getrecommendations! Published in 2022 at "Annals of the New York Academy of Sciences"
DOI: 10.1111/nyas.14866
Abstract: Fumarate hydratase (FH) catalyzes the conversion of fumaric acid to L‐malic acid. Heterozygous variants of the human fumarate hydratase gene (FH) predispose to hereditary leiomyomatosis and renal cell cancer and, rarely, pheochromocytoma/paraganglioma (PPGL). No mosaic… read more here.
Keywords: pheochromocytoma paraganglioma; germline variants; fumarate hydratase; hydratase gene ... See more keywords