Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy
Fadi F. Hamdan(Centre Hospitalier Universitaire Sainte-Justine), Jacques L. Michaud(Centre Hospitalier Universitaire Sainte-Justine), Sylvia Dobrzeniecka(Centre Hospitalier de l’Université de Montréal), Jean‐Claude Lacaille(Université de Montréal), Jean‐Claude Décarie(Université de Montréal), Dan Spiegelman(Montreal Neurological Institute and Hospital), Hirotomo Saitsu(Hamamatsu University), Naomichi Matsumoto(Yokohama City University), Guy A. Rouleau(Montreal Neurological Institute and Hospital), Julie Gauthier(Centre Hospitalier Universitaire Sainte-Justine), Kiyomi Nishiyama(Yokohama City University)
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