ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anttonen, A.-K., Laari, A., Kousi, M., Yang, Y. J., Jaaskelainen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lonnqvist, T., Pihko, H., and 10 others. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain 140: 1267-1279, 2017.