A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense <scp>FLNA</scp> Variant
The variant NM_001456.4: c.2351T>C detected in this study enhances our knowledge of the pleiotropy linked with heterozygous FLNA variants. By expanding the mutation spectrum of FLNA, these findings will lay a foundation for further studies on the correlation between genotypes and phenotypes.
Authors
- Junduo Zhao (ORCID: https://orcid.org/0000-0002-6102-9371)
- Yizhen Huang
- Jiayue Guo (ORCID: https://orcid.org/0009-0000-3702-5760)
- Haoyu Cai (ORCID: https://orcid.org/0009-0008-2586-5111)
- Jianxiong Shen (ORCID: https://orcid.org/0000-0002-1606-4370)
- Heng Sun (ORCID: https://orcid.org/0009-0009-0624-0156)
- Xuan Huang (ORCID: https://orcid.org/0000-0002-2677-7438)
- Haojie Chen (ORCID: https://orcid.org/0009-0005-4225-5460)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Orthopaedic Surgery
- Published
- 2025-04-23
- DOI
- https://doi.org/10.1111/os.70026
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China