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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Korean Med Sci
Main Authors: Heo, Ju Sun, Song, Joo Young, Choi, Eun Young, Kim, Eun-Hee, Kim, Ji Hee, Park, So Eun, Jeon, Ji-Hyun
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2017
Assuntos:
Images in This Issue
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5143279/
https://ncbi.nlm.nih.gov/pubmed/27914124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2017.32.1.1
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados