American journal of medical genetics. Part A
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Giuseppe Reynolds, Ilaria Carelli, Federico Rondot, Stefania Massuras, Veronica Pagliardini, Vincenza Gragnaniello, Alberto B Burlina, Sara Resciniti, Simona Agata, Davide Colavito, Alessandro Mussa
Published: 202510.1002/ajmga.70026
Abstract
Congenital disorders of glycosylation (CDG) are a heterogeneous group of metabolic diseases caused by defects in glycan biosynthesis, predominantly affecting the N-glycosylation pathway. Pathogenic variants in the DDOST gene, encoding a non-catalytic…
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