Condition: Congenital Disorder Of Glycosylation, Type In


rs763862849 in RFT1 gene and Congenital Disorder Of Glycosylation, Type In PMID 19701946 2009 RFT1 deficiency in three novel CDG patients.

PMID 18313027 2008 Human RFT1 deficiency leads to a disorder of N-linked glycosylation.