Article
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica - 1 Jun 2023
Karaghiannis Valéna, Maric Darko, Garrec Céline, Maaziz Nada, Buffet Alexandre, Schmitt Loïc, Antunes Vincent, Airaud Fabrice, Aral Bernard, Le Roy Amandine, Corbineau Sébastien, Mansour-Hendili Lamisse, Lesieur Valentine, Rimbert Antoine, Laporte Fabien, Delamare Marine, Rab Minke, Bézieau Stéphane, Cassinat Bruno, Galacteros Frédéric, Gimenez-Roqueplo Anne-Paule, Burnichon Nelly, Cario Holger, Van Wijk Richard, Bento Celeste, Girodon François, Hoogewijs David, Gardie Betty
Abstract excerpt
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we describe a unique European collection of 41 patients and 28 relatives diagnosed with an erythrocytosis associated with a germline genetic variant in EPAS1. In addition we...
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