Condition: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj


rs376663459 in COG4 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj PMID 19494034 2009 Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

PMID 21185756 2011 Identification of the first COG-CDG patient of Indian origin.