The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous < b > < i > COG5 < /i > < /b > c.95T & #x3e;G Variant

Discussion: Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygousCOG5 c.95T#x3e;G variant.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research