Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia

Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia

Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Her...

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Main Authors: Marin-Valencia, I, Gerondopoulos, A, Zaki, MS, Ben-Omran, T, Almureikhi, M, Demir, E, Guemez-Gamboa, A, Gregor, A, Issa, MY, Appelhof, B, Roosing, S, Musaev, D, Rosti, B, Wirth, S, Stanley, V, Baas, F, Barr, FA, Gleeson, JG
格式: Journal article
語言:English
出版: Cell Press 2017

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