De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Daphné Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont, Yannis Duffourd, Floor Duijkers, Orly Elpeleg, Aviva Fattal, David Geneviève, Maria J Guillen Sacoto, Anne Guimier, David J Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Eriko Koshimizu, Klaske Lichtenbelt, Valerie Loik Ramey, Miriam Maik, Sakoto Miyakate, Yoshiko Murakami, Laurent Pasquier, Helio Pedro, Laurie Simone, Krista Sondergaard-Schatz, Judith St-Onge, Julien Thevenon, Irene Valenzuela, Rami Abou Jamra, Koen van Gassen, Mieke M van Haelst, Silvana van Koningsbruggen, Edgard Verdura, Christa Whelan Habela, Pia Zacher, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Joerg Betschinger, Laurence Faivre
Journal of Medical Genetics Dec 2020, 57 (12) 808-819; DOI: 10.1136/jmedgenet-2019-106508
