Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Thi Tuyet Mai Nguyen(Centre Hospitalier Universitaire Sainte-Justine), Philippe M. Campeau(Centre Hospitalier Universitaire Sainte-Justine), Athina Ververi(Great Ormond Street Hospital for Children NHS Foundation Trust), Marcello Niceta(Bambino Gesù Children's Hospital), Damir Musaev(Yale University), Weiyi Mu(Johns Hopkins University), Kristin Barañano(Johns Hopkins University), Christel Thauvin‐Robinet(Hôpital d'Enfants), Shazia Maqbool, Maha S. Zaki(National Research Centre), Kiely N. James(Children’s Institute), Fatima Rahman, Stéphanie Efthymiou(Queen Mary University of London), Matthew J. Elrick(Johns Hopkins University), Christophe Philippe(Inserm), Francisca Millan, Giuseppe Zampino(Università Cattolica del Sacro Cuore), Sabrina Mobilio(Northwell Health), Irina Anselm(Boston Children's Hospital), Marco Tartaglia(Istituto Superiore di Sanità), Jill A. Rosenfeld(Baylor College of Medicine), Jessica Nance(Johns Hopkins University), Andrea Ciolfi(Bambino Gesù Children's Hospital), Nancy Braverman(McGill University), Taroh Kinoshita(The University of Osaka), Sébastien Moutton(Maison des Sciences sociales et des Humanités de Dijon), Lance H. Rodan(Boston Children's Hospital), Justine Rousseau(Centre Hospitalier Universitaire Sainte-Justine), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Alison Male(Great Ormond Street Hospital), Joseph G. Gleeson(Howard Hughes Medical Institute), Ange-Line Bruel, Richard Person(Baylor College of Medicine), Nissan Baratang, Yoshiko Murakami(Hidaka Hospital), Catherine DeVile(Great Ormond Street Hospital for Children NHS Foundation Trust), Anik St‐Denis(Centre Hospitalier Universitaire Sainte-Justine)
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