Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees
Our findings emphasize the extensive clinical and genetic implications of GTPBP3-related mitochondrial disorders, particularly within the Chinese population, but further investigations are needed to explore the phenotype-genotype correlation.
Authors
- Yaojun Xie
- Zhehui Chen (ORCID: https://orcid.org/0000-0002-6139-5347)
- Xiaofei Zeng (ORCID: https://orcid.org/0000-0001-8127-3825)
- Xiaoting Lou (ORCID: https://orcid.org/0009-0008-2125-6394)
- Liqin Jin (ORCID: https://orcid.org/0000-0002-1351-1948)
- Luyi Zhang
- Yuwei Zhou
- Yanling Yang
- Keyi Li (ORCID: https://orcid.org/0009-0009-6880-2433)
- Li Yang (ORCID: https://orcid.org/0000-0001-8833-7473)
- Xue Ma
Institutions
- Central South University (CN)
- Peking University (CN)
- Wenzhou Medical University (CN)
- Peking University First Hospital (CN)
- Zhejiang Provincial People's Hospital (CN)
- Obstetrics and Gynecology Hospital of Fudan University (CN)
- Xiangya Hospital Central South University (CN)
- Hangzhou Medical College (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1186/s13023-024-03469-3
- Citations
- 1
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Wenzhou Medical University
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- Key Discipline of Zhejiang Province in Medical Technology
- National Key Research and Development Program of China