Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev, Weiyi Mu, Kristin Baranano, Jessica R. Nance, Jill A. Rosenfeld, Nancy Braverman, Andrea Ciolfi, Francisca Millan, Richard E. Person, Ange Line Bruel, Christel Thauvin-RobinetAthina Ververi, Catherine DeVile, Alison Male, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Shazia Maqbool, Fatima Rahman, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Matthew J. Elrick, Irina Anselm, Lance H. Rodan, Marco Tartaglia, Joseph Gleeson, Taroh Kinoshita, Philippe M. Campeau

Research output: Contribution to journal › Article › peer-review

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