A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome

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 vitro mini-g...

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Detalles Bibliográficos
Autores principales: Wu, Yuduo, Sun, Hairui, He, Yihua, Zhang, Hongjia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788922/
https://www.ncbi.nlm.nih.gov/pubmed/33407909
http://dx.doi.org/10.1186/s41065-020-00170-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788922/
https://www.ncbi.nlm.nih.gov/pubmed/33407909
http://dx.doi.org/10.1186/s41065-020-00170-w

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