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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Rush ET, Baker CV, Rizzo WB. Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. Am J Med Genet A. 2017 Sep; 173(9):2428-2434.
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PubMed
subject areas
Cardiomyopathy, Dilated
Congenital Disorders of Glycosylation
Female
Humans
Ichthyosis
Infant
Infant, Newborn
Lipid Metabolism
Mutation
Phenotype
Phosphotransferases (Alcohol Group Acceptor)
Siblings
authors with profiles
Eric T. Rush