Table 3 of
Vanita, Mol Vis 2007;
13:2035-2040.Table 3 of
Vanita, Mol Vis 2007;
13:2035-2040.
Table 3. Previously reported families or individuals with different geographic origins with the fibrillin-1 R240C mutation
Thirteen of fifteen reported individuals had isolated ectopia lentis, two were asymptomatic, and two had additional findings.
Geographical
Clinical details origins Reference
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Isolated ectopia lentis Australia [16]
(12 affected, 2 unaffected mutation carriers)
Isolated ectopia lentis Finland [23]
(one person)
Ectopia lentis UK [15]
(joint hypermobility, involvement of integument)
Classic Marfan syndrome Belgium [10]
(skeletal, cardiovascular, ocular)
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