Associated Papers
Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment.
Zhao P et al.
Frontiers in Genetics, 2023
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
Fiumara A et al.
Jimd Reports, 2016
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R et al.
Annals of Neurology, 2012
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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