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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Autores principales: Wang, M, Kishnani, P, Decker-Phillips, M, Kahler, S G, Chen, Y T, Godfrey, M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050731/
https://ncbi.nlm.nih.gov/pubmed/8880577
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