Investigative Ophthalmology & Visual Science · 2013 · 53 citations · 42 references
These data suggest that fibrillin 1 assembly and fibrillin 2 assembly share similar mechanisms. Microfibril composition depends substantially on the local levels of fibrillin isoforms and is not highly selective in regard to the isoform. This raises the intriguing possibility that the zonule could be strengthened in MFS by inducing fibrillin 2 expression in ciliary epithelium. The presence of fibrillin 2 in the murine zonule and an intact zonule in Fbn1-knockout mice may limit the utility of rodent models for studying ectopia lentis in MFS.
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The revised Ghent nosology for the Marfan syndrome: Table 1
Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text