Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS). Patients with nMFS have mitral and tricuspid valve involvement and aortic root dil...

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Main Authors: Wang, M, Kishnani, P, Decker-Phillips, M, Kahler, S G, Chen, Y T, Godfrey, M
Formato: Artigo
Idioma:Inglês
Publicado: 1996
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050731/
https://ncbi.nlm.nih.gov/pubmed/8880577
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