[Analysis of FBN1 gene mutations in six Chinese pedigrees affected with Marfan syndrome].
Four novel variants of the FBN1 gene have been discovered in this study, which has enriched the mutational and phenotypic spectrum of MFS and provided a basis for disease diagnosis and genetic counseling.
Authors
- Bingjie Hu (ORCID: https://orcid.org/0000-0002-6677-9454)
- Xianhong Ding
- Yicheng Fang (ORCID: https://orcid.org/0000-0001-7216-5179)
- Hongliang Chen (ORCID: https://orcid.org/0000-0002-2563-2018)
- Mengyi Xu (ORCID: https://orcid.org/0000-0002-7482-6345)
- Lu Yang (ORCID: https://orcid.org/0000-0001-9144-3234)
- Bo Shen
Institutions
- Wenzhou Medical University (CN)
- Zhejiang Taizhou Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240828-00459
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article