Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Ivanova, Ekaterina L

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. [electronic resource] - American journal of human genetics Sep 2017 - 428-440 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2017.07.010 doi


Adolescent
Animals
Cells, Cultured
Cerebellar Diseases--genetics
Cerebellum--abnormalities
Child
Child, Preschool
Developmental Disabilities--genetics
Embryo, Mammalian--metabolism
Female
GTPase-Activating Proteins--genetics
Homozygote
Humans
Intellectual Disability--genetics
Male
Mice
Microcephaly--genetics
Mutation
Nervous System Malformations--genetics
Neuroblastoma--genetics
Neuronal Outgrowth
Neurons--metabolism
Pedigree