Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Author(s):
Marin-Valencia, I.; Gerondopoulos, A.; Zaki, M.S.; Ben-Omran, T.; Almureikhi, M.; Demir, E.; Guemez-Gamboa, A.; Gregor, A.; Issa, M.Y.; Appelhof, B.; Roosing, S.; Musaev, D.; Rosti, B.; Wirth, S.; Stanley, V.; Baas, F.; Barr, F.A.; Gleeson, J.G.
Published
2017
Publication type
Article / Letter to editor
Date issued
2017-09-07
Language
English
Is part of
American Journal of Human Genetics (2017), Vol. 101, no. 3, p. 441-450
hdl
1887/3140464
doi
10.1016/j.ajhg.2017.07.015