ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Ange‐Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez–Heydrich, Parul Jayakar, Jacob Zyskind, Zehua Zhu, Clemence Vachet, Gena Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin‐Robinet, Christophe Philippe, Laurence Faivre
Topics & Concepts
Intellectual disabilityAutismAutism spectrum disorderMissense mutationExome sequencingEpilepsyNeurodevelopmental disorderGeneticsExomeCopy-number variationPhenotypeBiologyGeneMedicinePsychiatryGenomeAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases