TY  - GEN
AU  - Oegema,Renske
AU  - Cushion,Thomas D
AU  - Phelps,Ian G
AU  - Chung,Seo-Kyung
AU  - Dempsey,Jennifer C
AU  - Collins,Sarah
AU  - Mullins,Jonathan G L
AU  - Dudding,Tracy
AU  - Gill,Harinder
AU  - Green,Andrew J
AU  - Dobyns,William B
AU  - Ishak,Gisele E
AU  - Rees,Mark I
AU  - Doherty,Dan
TI  - Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
SN  - 1460-2083
PY  - 2016///0531
KW  - Alleles
KW  - Brain
KW  - pathology
KW  - Cell Line
KW  - Cerebellar Vermis
KW  - Cerebellum
KW  - Cohort Studies
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Microtubules
KW  - chemistry
KW  - Models, Molecular
KW  - Mutation
KW  - Nervous System Malformations
KW  - diagnosis
KW  - Phenotype
KW  - Protein Conformation
KW  - Protein Multimerization
KW  - Structure-Activity Relationship
KW  - Tubulin
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddv250
ER  -