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Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier by Jelle Vlaeminck, Sophie Uyttebroeck, Elke De Schutter, Ann Cordenier, Shauni Wellekens, Erwin Ströker, Kelly De Rooms, Christine Helsen, Frederik J. Hes, Philippe Giron
Published 2025-06-01Get full text
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Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9 by Noah C. Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, Davy Cats, Marcos Díaz-Gay, Marjolijn C.J. Jongmans, Ashwin Ramdien, Irma van de Beek, Thomas F. Eleveld, Andrew Green, Frederik J. Hes, Marry M. van den Heuvel-Eibrink, Annelore Van Der Kelen, Sabine Kliesch, Roland P. Kuiper, Inge M.M. Lakeman, Lisa E.E.L.O. Lashley, Leendert H.J. Looijenga, Manon S. Oud, Johanna Steingröver, Yardena Tenenbaum-Rakover, Carli M. Tops, Frank Tüttelmann, Richarda M. de Voer, Dineke Westra, Margot J. Wyrwoll, Mariano Golubicki, Marina Antelo, Laia Bonjoch, Mariona Terradas, Laura Valle, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, Maartje Nielsen
Published 2025-10-01Get full text
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