Article
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
European journal of human genetics : EJHG - 1 Aug 2020
Juven Aurélien, Nambot Sophie, Piton Amélie, Jean-Marçais Nolwenn, Masurel Alice, Callier Patrick, Marle Nathalie, Mosca-Boidron Anne-Laure, Kuentz Paul, Philippe Christophe, Chevarin Martin, Duffourd Yannis, Gautier Elodie, Munnich Arnold, Rio Marlène, Rondeau Sophie, El Chehadeh Salima, Schaefer Élise, Gérard Bénédicte, Bouquillon Sonia, Delorme Catherine Vincent, Francannet Christine, Laffargue Fanny, Gouas Laetitia, Isidor Bertrand, Vincent Marie, Blesson Sophie, Giuliano Fabienne, Pichon Olivier, Le Caignec Cédric, Journel Hubert, Perrin-Sabourin Laurence, Fabre-Teste Jennifer, Martin Dominique, Vieville Gaelle, Dieterich Klaus, Lacombe Didier, Denommé-Pichon Anne-Sophie, Thauvin-Robinet Christel, Faivre Laurence
Abstract excerpt
Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. In 2014, ZBTB20 variants were identified as responsible for this syndrome. Indeed, ZBTB20 plays an important role in cognition, memory, learning processes, and has a...
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