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Congenital Disorder of Glycosylation Im
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and is caused by homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de
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Overview
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and is caused by homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de
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