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Article

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

Journal of human genetics - 1 Dec 2020

Bian Yue, Qiao Chong, Zheng ShuGuang, Qiu Hao, Li Huan, Zhang ZhiTao, Yin ShaoWei, Jiang HongKun, Li-Ling Jesse, Liu CaiXia, Lyu Yuan

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death. Whole-exome sequencing revealed two novel variants in ALG3: NM_005787.6:c.512G>T (p.Arg171Leu) inherited from the mother and NM_005787.6:c.511C>T...

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Identifiers

PMID: 32655146
DOI: 10.1038/s10038-020-0798-7
PMCID: PMC7605439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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