Article
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
European journal of medical genetics - 1 Oct 2020
Vera Gabriella, Sorlin Arthur, Delplancq Geoffroy, Lecoquierre François, Brasseur-Daudruy Marie, Petit Florence, Smol Thomas, Ziegler Alban, Bonneau Dominique, Colin Estelle, Mercier Sandra, Cogné Benjamin, Bézieau Stéphane, Edery Patrick, Lesca Gaetan, Chatron Nicolas, Sabatier Isabelle, Duban-Bedu Bénédicte, Colson Cindy, Piton Amélie, Durand Benjamin, Capri Yline, Perrin Laurence, Wiesener Antje, Zweier Christiane, Maroofian Reza, Carroll Christopher J, Galehdari Hamid, Mazaheri Neda, Callewaert Bert, Giulianno Fabienne, Zaafrane-Khachnaoui Khaoula, Buchert-Lo Rebecca, Haack Tobias, Magg Janine, Rieß Angelika, Blandfort Maria, Waldmüller Stephan, Horber Veronka, Leonardi Emanuela, Polli Roberta, Turolla Licia, Murgia Alessandra, Frebourg Thierry, Lebre Anne Sophie, Nicolas Gaël, Saugier-Veber Pascale, Guerrot Anne-Marie
Abstract excerpt
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients was recently published, which is consistent with the relative...
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