Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2

ConclusionWe described a CDG patient with novel phenotypes and disruptive N-glycan profiling caused by compound heterozygousMAN2B2 variants (c.384G>T; c.926T>A). Our findings broadened both the genetic and clinical spectra of CDG.

Source: Molecular Genetics & Genomic Medicine - April 16, 2024 Category: Genetics & Stem Cells Authors: Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang Tags: CLINICAL REPORT Source Type: research