TY  - GEN
AU  - Low,Karen J
AU  - Baptista,J
AU  - Babiker,M
AU  - Caswell,R
AU  - King,C
AU  - Ellard,S
AU  - Scurr,I
TI  - Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay
SN  - 1878-0849
PY  - 2019///0315
KW  - Brain Diseases
KW  - genetics
KW  - Cerebellum
KW  - pathology
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - Female
KW  - Genes, Recessive
KW  - Hemizygote
KW  - Humans
KW  - Microcephaly
KW  - Movement
KW  - Mutation, Missense
KW  - Syndrome
KW  - Ubiquitin-Activating Enzymes
KW  - chemistry
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2018.06.009
ER  -