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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wang, M, Kishnani, P, Decker-Phillips, M, Kahler, S G, Chen, Y T, Godfrey, M
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050731/
https://ncbi.nlm.nih.gov/pubmed/8880577
Tagiau: Ychwanegu Tag
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