Article
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Molecular genetics and metabolism - 1 Dec 2020
Ferrer Alejandro, Starosta Rodrigo Tzovenos, Ranatunga Wasantha, Ungar Dani, Kozicz Tamas, Klee Eric, Rust Laura M, Wick Myra, Morava Eva
Abstract excerpt
INTRODUCTION: Congenital disorders of glycosylation (CDG) are inborn errors of glycan metabolism with high clinical variability. Only a few antenatal cases have been described with CDG. Due to a lack of reliable biomarker, prenatal CDG diagnostics relies primarily on molecular studies. In the presence of variants of uncertain significance prenatal glycosylation studies are very challenging. CASE REPORT: A...
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