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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frédéric Bilan, Gwenaël Le Guyader, Ange-Line Bruel, Anne‐Sophie Denommé‐Pichon, Laurence Faivre, Frédéric Tran Mau‐Them, Marine Tessarech, Estelle Colin, Salima El Chehadeh, Bénédicte Gérard, Élise Schaefer, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Diane Doummar, Stéphanie Valence, Delphine Héron, Boris Keren, Cyril Mignot, Charles Coutton, Françoise Devillard, Anne-Sophie Alaix, Jeanne Amiel, Laurence Colleaux, Arnold Munnich, Karine Poirier, Marlène Rio, Sophie Rondeau, Giulia Barcia, Bert Callewaert, Annelies Dheedene, Candy Kumps, Sarah Vergult, Björn Menten, Wendy K. Chung, Rebecca Hernan, Austin Larson, Kelly Nori, Sarah Stewart, James W. Wheless, Christina Kresge, Beth A. Pletcher, Roseline Caumes, Thomas Smol, Sabine Sigaudy, Christine Coubes, Margaret Helm, Rosemarie Smith, Jennifer Morrison, Patricia G. Wheeler, Amy Kritzer, Guillaume Jouret, Alexandra Afenjar, Jean‐François Deleuze, Robert Olaso, Anne Boland, Christine Poitou, Thierry Frébourg, Claude Houdayer, Pascale Saugier-Véber, Gaël Nicolas, François Lecoquierre

2021Human Genetics36 citationsDOIOpen Access PDF

Topics & Concepts

Intellectual disabilityNeurodevelopmental disorderMissense mutationAutism spectrum disorderBiologyAutismDevelopmental disorderPhenotypeEpilepsyGeneticsCopy-number variationHuman geneticsBioinformaticsGeneMedicinePsychiatryNeuroscienceGenomeGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects | Litcius