Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea

Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ea...

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Detalles Bibliográficos
Autores principales: Heo, Ju Sun, Song, Joo Young, Choi, Eun Young, Kim, Eun-Hee, Kim, Ji Hee, Park, So Eun, Jeon, Ji-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2017
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143279/
https://www.ncbi.nlm.nih.gov/pubmed/27914124
http://dx.doi.org/10.3346/jkms.2017.32.1.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143279/
https://www.ncbi.nlm.nih.gov/pubmed/27914124
http://dx.doi.org/10.3346/jkms.2017.32.1.1

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