Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients
This findings expand the spectrum of known clinical presentations and genetic variants in CDG, and establish possible genotype-phenotype correlations of several pathogenic genes, emphasizing the need for functional studies to unravel the underlying mechanisms.
Authors
- Yanqiu Hu
- Shiqiong Zhou
- Lei Zhang (ORCID: https://orcid.org/0000-0002-5741-5085)
- Li Jun Tan (ORCID: https://orcid.org/0000-0001-5968-6455)
- Xiankai Zhang
- Qingjie Meng
- Peiwei Zhao
- Yufeng Huang
- Xuelian He
Institutions
- Wuhan Children's Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-12-23
- DOI
- https://doi.org/10.1186/s13023-025-04075-7
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Hubei Province