Three families with mild PMM2-CDG and normal cognitive development. [electronic resource]
Producer: 20171201Description: 1620-1624 p. digitalISSN:- 1552-4833
- Adolescent
- Cerebellum -- abnormalities
- Child
- Child, Preschool
- Cognition -- physiology
- Congenital Disorders of Glycosylation -- diagnostic imaging
- Developmental Disabilities -- diagnostic imaging
- Female
- Genotype
- Humans
- Magnetic Resonance Imaging
- Male
- Mutation
- Nervous System Malformations -- diagnostic imaging
- Phenotype
- Phosphotransferases (Phosphomutases) -- genetics
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Publication Type: Journal Article
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