Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families
This study describes three large families with CCA caused by missense variants in the <i>FBN2</i> gene. Phenotypic variations were observed among different pedigree groups, and further research is needed to investigate the underlying reasons for these variations.
Authors
- Xiang Ni
- Xinren Chen (ORCID: https://orcid.org/0000-0002-9799-4878)
- Meina Lin (ORCID: https://orcid.org/0000-0002-4567-3765)
- Yongping Lu
- Huan Li (ORCID: https://orcid.org/0000-0003-3878-0973)
- Miao Jiang (ORCID: https://orcid.org/0000-0002-3681-9494)
- Yu Sui
Institutions
- China Medical University (CN)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101140
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- China Medical University
- Department of Science and Technology of Liaoning Province