Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.
Brain : a journal of neurology
Authors:
Luisa Averdunk, Martin Groß, Anna B Hamacher, Sandra Donkervoort, Diran Herebian, Shekeeb Mohammad, Alexej Knaus, Annette Seibt, Joerg Schaper, Heinrich Sticht, Samantha Bryen, Ann Kathrin Bergmann, Miriam Langener, Lenika De Simone, Angelina Markshausen, Guy Lenk, Sujal Ghosh, Sarah Sandaradura, Tanja Guthoff, Richard J Leventer, Rotem Orbach, Rocio Rius, Nikola Morton, Kimberly Gilmour, Ertan Mayatepek, Peter Krawitz, Carsten G Bönnemann, Juliane Bremer, Felix Distelmaier