Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

por Jurkiewicz, E., Dunin-Wąsowicz, D., Gieruszczak-Białek, D., Malczyk, K., Guerrero, K., Gutierrez, M., Tran, L., Bernard, G.
Publicado 2015