Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy
The current study expanded the pathogenic variant spectrum of <i>SSR4</i> gene and revealed the impact of c.351+1del on <i>SSR4</i> splicing. Standardizing the transcript and naming conventions of variants were crucial for the study of <i>SSR4</i> genotypes and phenotypes.
Authors
- Ning Li (ORCID: https://orcid.org/0000-0003-0856-3062)
- Chen Chen (ORCID: https://orcid.org/0000-0003-4569-6032)
Institutions
- Central South University (CN)
- Liuyang City Maternal and Child Health Hospital (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-10-24
- DOI
- https://doi.org/10.3389/fped.2025.1651524
- Citations
- 1
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.81