PMC3566894_01
Pedigree of family with microphthalmia with linear skin defects syndrome. Open circles represent healthy females, filled circles are affected females, squares are healthy males, and small filled circles represent spontaneous abortions in the first trimester of pregnancy; the sex of the fetuses of the latter was unknown.
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This study was approved by the ethics committee of Ghent University Hospital. The proband is a 12-year-old girl, while her mother is 45 (Figure 1).