A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

BACKGROUND: Marfan syndrome (MFS) is a heritable disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1). Neonatal Marfan syndrome (nMFS) is rare and the most severe form of MFS, involving rapidly progressive cardiovascular dysfunction leading to death during...

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Detalles Bibliográficos
Autores principales: Peng, Qian, Deng, Yan, Yang, Yuan, Liu, Hanmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852411/
https://www.ncbi.nlm.nih.gov/pubmed/27138491
http://dx.doi.org/10.1186/s12887-016-0598-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852411/
https://www.ncbi.nlm.nih.gov/pubmed/27138491
http://dx.doi.org/10.1186/s12887-016-0598-6

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