Key features and clinical variability of COG6-CDG. [electronic resource]
Producer: 20160829Description: 163-70 p. digitalISSN:- 1096-7206
- Adaptor Proteins, Vesicular Transport -- genetics
- Adolescent
- Child
- Congenital Disorders of Glycosylation -- complications
- Female
- Genetic Association Studies
- Glycosylation
- Golgi Apparatus -- genetics
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Male
- Microcephaly -- etiology
- Molecular Sequence Data
- Mutation
- Phenotype
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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