Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion
Xiaofan Bie, Lei Liu, Lingzhi Liu, Zhenkun Zhang, Mingwei Guo, Zhenhua Xie, Yaodong Zhang, Jun Su, Dongxiao Li · 2025
Read Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion by Xiaofan Bie, Lei Liu, Lingzhi Liu, Zhenkun Zhang, Mingwei Guo, Zhenhua Xie, Yaodong Zhang, Jun Su, Dongxiao Li (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12659240.txt.
Description
BackgroundCockayne Syndrome (CS) is a rare autosomal recessive genetic disease, mainly caused by ERCC8 and ERCC6 gene defect. However, many of its molecular characteristics remain unclear. In this study, molecular genetic analysis was performed on a patient to clarify her genetic etiology.ResultsA 7-year-old girl fever for 4 days and thrombocytopenia for half a day.
Catalog record
| CREATOR | Xiaofan Bie, Lei Liu, Lingzhi Liu, Zhenkun Zhang, Mingwei Guo, Zhenhua Xie, Yaodong Zhang, Jun Su, Dongxiao Li |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |