TY  - GEN
AU  - Vals,Mari-Anne
AU  - Morava,Eva
AU  - Teeäär,Kai
AU  - Zordania,Riina
AU  - Pajusalu,Sander
AU  - Lefeber,Dirk J
AU  - Õunap,Katrin
TI  - Three families with mild PMM2-CDG and normal cognitive development
SN  - 1552-4833
PY  - 2017///1201
KW  - Adolescent
KW  - Cerebellum
KW  - abnormalities
KW  - Child
KW  - Child, Preschool
KW  - Cognition
KW  - physiology
KW  - Congenital Disorders of Glycosylation
KW  - diagnostic imaging
KW  - Developmental Disabilities
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Nervous System Malformations
KW  - Phenotype
KW  - Phosphotransferases (Phosphomutases)
KW  - genetics
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/ajmg.a.38235
ER  -