A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome
Abstract Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vit...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-01-01
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| Series: | Hereditas |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41065-020-00170-w |