Construct · 1 fields · 1 citations

revised Ghent nosology: a standalone construct

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Medical genetics

diagnostic criteria for Marfan syndrome centring on aortic root dilation and ectopia lentis, with a systemic score and FBN1 testing.

In medical genetics, revised Ghent nosology refers to diagnostic criteria for Marfan syndrome centring on aortic root dilation and ectopia lentis, with a systemic score and FBN1 testing. This meaning comes from Loeys (2010) in Journal of Medical Genetics.[1]

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Nearby constructs

dilation4 fields · 5 citationsjingle · one word, four constructs root3 fields · 5 citationsjingle · one word, three constructs score2 fields · 3 citationsjingle · one word, two constructs

References

Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., & De Paepe, A. M. (2010). The revised Ghent nosology for the Marfan syndrome: Table 1. Journal of Medical Genetics, 47(7), 476-485. https://doi.org/10.1136/jmg.2009.072785

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