Associated Papers
Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.
Liu K et al.
Human Genomics, 2025
Genomic insights into Rett syndrome-like features in Bangladeshi participants.
Akter H et al.
Genetics in Medicine Open, 2025
Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.
Huang W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL et al.
American Journal of Human Genetics, 2017
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