Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with dif...

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Detalles Bibliográficos
Autores principales: Wang, Yueli, Li, Xiaoyan, Li, Rongjuan, Yang, Ya, Du, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932419/
https://www.ncbi.nlm.nih.gov/pubmed/29850472
http://dx.doi.org/10.1155/2018/1246516

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932419/
https://www.ncbi.nlm.nih.gov/pubmed/29850472
http://dx.doi.org/10.1155/2018/1246516

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