Three families with mild PMM2-CDG and normal cognitive development.

Vals, Mari-Anne

Three families with mild PMM2-CDG and normal cognitive development. [electronic resource] - American journal of medical genetics. Part A Jun 2017 - 1620-1624 p. digital

Publication Type: Journal Article

1552-4833

10.1002/ajmg.a.38235 doi


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