Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and revie...

by Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
Published 2021-12-01

Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

by Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaelle Pierron, Yvan Nicaise, Marion Gambart, Isabelle Catalaa, Sarah Péricart, Charlotte Dubucs, Badreddine Mohand-Oumoussa, Franck Tirode, Franck Bourdeaut, Emmanuelle Uro-Coste
Published 2019-12-01